ClinVar Miner

List of variants in gene LDLR studied for not provided

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Total variants: 204
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HGVS dbSNP
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1011_1025del (p.Glu337_Pro341del)
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1105G>A (p.Val369Met) rs730882097
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1187-14C>T rs1284033782
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1239G>A (p.Thr413=) rs777011006
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1284C>T (p.Asn428=) rs368708058
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.4(LDLR):c.1336C>G (p.Leu446Val) rs375651668
NM_000527.4(LDLR):c.1356C>T (p.Cys452=) rs137853961
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1381G>T (p.Gly461Cys) rs193922568
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1402G>A (p.Val468Ile) rs5932
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) rs879254892
NM_000527.4(LDLR):c.1439C>T (p.Ala480Val) rs1064794259
NM_000527.4(LDLR):c.143G>A (p.Gly48Asp) rs730882077
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
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.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1540G>T (p.Glu514Ter) rs1555805507
NM_000527.4(LDLR):c.1547G>A (p.Gly516Asp) rs730882104
NM_000527.4(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1570G>A (p.Val524Met) rs730882105
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.4(LDLR):c.1580T>C (p.Val527Ala) rs730882107
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1659C>G (p.Tyr553Ter) rs564258872
NM_000527.4(LDLR):c.1700C>A (p.Thr567Asn) rs1555806098
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-1G>C rs879254996
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1747C>G (p.His583Asp) rs730882109
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1765G>C (p.Asp589His) rs201971888
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.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1808dup (p.Arg604Glufs) rs1555806526
NM_000527.4(LDLR):c.1811delGinsCT (p.Arg604Thrfs) rs1555806529
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.1987+10G>T rs375846192
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2061dupC (p.Asn688Glnfs) rs137853965
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2116A>G (p.Arg706Gly) rs730882112
NM_000527.4(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.4(LDLR):c.2126G>A (p.Arg709Lys) rs730882113
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.214delG (p.Asp72Thrfs) rs879254438
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2233_2291del59 (p.Pro745Serfs) rs1555808094
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.2271delT (p.Leu759Serfs) rs875989940
NM_000527.4(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2311+10G>A
NM_000527.4(LDLR):c.2356A>G (p.Ser786Gly) rs730882114
NM_000527.4(LDLR):c.2389+1G>A rs879255186
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.2398G>A (p.Val800Ile) rs200243555
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2478delC (p.Val827Serfs) rs747344293
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.4(LDLR):c.2549_2550delGA (p.Arg850Thrfs) rs1555809910
NM_000527.4(LDLR):c.257_265delTCTGGAGGT (p.Phe86_Arg88del) rs879254451
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.267C>T (p.Cys89=) rs777640882
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.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+3A>C rs1064793799
NM_000527.4(LDLR):c.314C>T (p.Pro105Leu) rs730882079
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.337dup (p.Glu113Glyfs) rs752191968
NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.4(LDLR):c.392A>G (p.Asp131Gly) rs730882081
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.4(LDLR):c.410G>T (p.Gly137Val) rs730882083
NM_000527.4(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.460delC (p.Gln154Serfs) rs1085307605
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.513delC (p.Asp172Thrfs) rs879254552
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.545A>G (p.Gln182Arg) rs730882084
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.564C>T (p.Tyr188=) rs121908034
NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.632A>T (p.His211Leu) rs879254603
NM_000527.4(LDLR):c.653delG (p.Gly218Valfs) rs137853966
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.656G>A (p.Gly219Asp) rs201384282
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.4(LDLR):c.67+18C>A rs17242759
NM_000527.4(LDLR):c.68-1G>C rs879254397
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.680_682delACGinsCGGTATGGACTGCA (p.Asp227Alafs) rs879254637
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.683A>C (p.Glu228Ala) rs879254642
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.770_771delGGinsAC (p.Arg257His) rs730882087
NM_000527.4(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.4(LDLR):c.790A>C (p.Met264Leu) rs730882088
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.827G>C (p.Cys276Ser) rs730882089
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.854A>G (p.His285Arg) rs1555803855
NM_000527.4(LDLR):c.865T>G (p.Cys289Gly) rs879254697
NM_000527.4(LDLR):c.892A>G (p.Met298Val) rs730882092
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.908G>A (p.Arg303Gln) rs730882093
NM_000527.4(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.932_939delAAGAGTGCinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp) rs1555803913
NM_000527.4(LDLR):c.938_939delGCinsAT (p.Cys313Tyr) rs875989910
NM_000527.4(LDLR):c.940G>A (p.Gly314Arg) rs72658858
NM_000527.4(LDLR):c.947A>G (p.Asn316Ser) rs730882094
NM_000527.4(LDLR):c.952T>C (p.Cys318Arg) rs879254738
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) rs121908024
NM_000527.4(LDLR):c.988A>C (p.Asn330His) rs730882095
NM_000527.4:c.772del

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