ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 51
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HGVS dbSNP
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1118_1121dupGTGG (p.Tyr375Trpfs) rs875989916
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1199_1207delACCTCTTCT (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.191-1G>A rs879254433
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2061dupC (p.Asn688Glnfs) rs137853965
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.513delC (p.Asp172Thrfs) rs879254552
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.663_683dup21 (p.Asp227_Glu228insAspCysLysAspLysSerAsp) rs879254620
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909

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