LDLR

Clinically classified variants

789 reference-table entries with clinical significance (first 200 shown).

• rs10423288Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs139066906Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs14158Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1433099Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs147509697Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs150644181Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs4508523Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs5742911Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs5925Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs6413504Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs6511720Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs688Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs72658861Benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs774698247Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs1057519652Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs1057519677Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519684Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs1060499931Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs112029328Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Homozygous familial hypercholesterolemia|Familial hypercholesterolemia
• rs1205480064Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs121908038Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs121908039Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs13306498Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Autosomal dominant familial hypercholesterolemia
• rs137853960Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs138315511Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs138477254Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs1399689294Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs140731590Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs140807148Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs143872778Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs149227308Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs17249141Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs193922568Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs368243304Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs368889457Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs370018159Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs371355878Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs373144619Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs373646964Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs375495026Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs397509365Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs531005522Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs557344672Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs574337291Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs577934998Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs5926Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs72658855Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs72658871Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs730882080Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Homozygous familial hypercholesterolemia|Familial hypercholesterolemia
• rs730882090Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs730882098Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs730882099Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs730882100Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs730882101Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs730882103Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs730882110Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs745343524Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs745753810Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs745776977Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs746834464Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs747507019Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs749220643Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs749780672Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs750474121Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs750518671Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs752951310Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs754536745Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs755154048Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs755757866Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs759876319Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs761683856Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs761954844Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs764493597Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs764929176Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs767546791Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs767767730Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs769383881Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Homozygous familial hypercholesterolemia
• rs770744861Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs771336748Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs771917370Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs773658037Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs773693079Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs774467219Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs774730452Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs776421777Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs777321035Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs777716188Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs780563386Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs781362878Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs875989886Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs875989918Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs875989930Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs875989933Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs875989936Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs878854025Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254364Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254366Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254368Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254372Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254391Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254420Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254421Conflicting interpretationsMicrosatelliteHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254427Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254444Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254451Conflicting interpretationsDeletionHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254457Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254459Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254468Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254508Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254524Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254544Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254585Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254603Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254604Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254659Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254661Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254665Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254679Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254680Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254692Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254697Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254719Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254728Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254750Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254808Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254820Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254834Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254839Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254847Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254850Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254853Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254870Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254889Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254890Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254897Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254903Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254908Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254912Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254921Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254937Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254968Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879254987Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255010Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255043Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255045Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255058Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255066Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255075Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255081Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255085Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255086Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255118Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs879255137Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255149Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255191Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs879255226Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1
• rs202049029Likely benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs730882111Likely benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs766709484Likely benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs875989899Likely benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs879254672Likely benignsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057516128Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519647Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519648Likely pathogenicDeletionHypercholesterolemia, familial, 1
• rs1057519649Likely pathogenicDuplicationHypercholesterolemia, familial, 1
• rs1057519650Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519655Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519664Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519669Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519670Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1057519675Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1060499919Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1060499921Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1060499930Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1060499933Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs1064793799Likely pathogenicsingle nucleotide variant
• rs1208216597Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs121908035Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs121908037Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs121908041Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs121908042Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs121908043Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs137943601Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Homozygous familial hypercholesterolemia|Familial hypercholesterolemia|Hypercholesterolemia
• rs140241383Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs150021927Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs193922566Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs193922571Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs2569548Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs28941776Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs28942083Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs28942084Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs28942085Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs368562025Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
• rs372845091Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs373822756Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
• rs375009082Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs377437226Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
• rs387906301Likely pathogenicDeletionHypercholesterolemia, familial, 1
• rs387906307Likely pathogenicDeletionHypercholesterolemia, familial, 1
• rs537484504Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1

Other listed variants

• rs5928
• rs5931
• rs5933
• rs1010679
• rs2228671
• rs2738442
• rs2738446
• rs2738450
• rs2738456
• rs11547917
• rs11669576
• rs12710260
• rs13306512
• rs13306515
• rs17242395
• rs17248748
• rs28942078
• rs28942080
• rs28942081
• rs28942082
• rs41301949
• rs45508991
• rs72658860
• rs72658864
• rs72658865
• rs72658867
• rs73015030
• rs73015034
• rs74257940
• rs112366278
• rs112954220
• rs113669610
• rs116405216
• rs121908024
• rs121908025
• rs121908026
• rs121908028
• rs121908029
• rs121908030

Public references

• NCBI Gene
• Ensembl
• ClinVar