ClinVar Miner

List of variants in gene LDLR reported by Robarts Research Institute,Western University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 201
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1
GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
GRCh38/hg38 19p13.2(chr19:11110651-11110772)x3
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x3
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1060+2T>G rs774069731
NM_000527.4(LDLR):c.1060+9C>T rs540073140
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1206_1207delCT (p.F402Ffs*37) rs879254829
NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1358+2T>C rs193922567
NM_000527.4(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.4(LDLR):c.1418T>G (p.Ile473Ser) rs879254895
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1432G>T (p.Gly478Trp) rs144614838
NM_000527.4(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1478_1479delCT (p.S493Cfs*41) rs869025453
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1494_1495CT[1] (p.Ser499fs) rs879254922
NM_000527.4(LDLR):c.14_15insCTTTC (p.W6Ffs*201) rs774615547
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1586+12C>T rs777953287
NM_000527.4(LDLR):c.1587-11C>T rs201957233
NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1693_1696del (p.Gly565fs) rs1555806088
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.171_173delTGA (p.D57del) rs879254421
NM_000527.4(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1744C>G (p.Leu582Val) rs1131692216
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.4(LDLR):c.1887C>T (p.Phe629=) rs751234870
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2088C>T (p.Cys696=) rs112954220
NM_000527.4(LDLR):c.2092T>G (p.Cys698Gly) rs1555807442
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2178del (p.Val727fs) rs879255156
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.233delG (p.R78Lfs*127) rs1057516129
NM_000527.4(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2389+2T>G rs879255188
NM_000527.4(LDLR):c.2390-2A>G rs767790696
NM_000527.4(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.4(LDLR):c.2427A>G (p.Leu809=) rs147191787
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) rs1057516132
NM_000527.4(LDLR):c.370_371insC (p.R124Pfs*5) rs1057516133
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.457T>G (p.Phe153Val) rs879254532
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) rs1057516135
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.504C>A (p.Asp168Glu) rs777321035
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.520G>T (p.Glu174Ter) rs777326720
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
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.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.571C>T (p.Gln191Ter) rs879254578
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.648dupT (p.C216Cfs*1) rs875989903
NM_000527.4(LDLR):c.651_653TGG[1] (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.653delG (p.G218Vfs*46) rs137853966
NM_000527.4(LDLR):c.655_657delGGC (p.G219del) rs879254616
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.695-1G>A rs879254652
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.905delG (p.C302Sfs*67) rs1057516130
NM_000527.4(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.