ClinVar Miner

List of variants in gene LDLR studied for not provided

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Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP
NM_000527.4(LDLR):c.1011_1025del (p.Glu337_Pro341del) rs1568600459
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1105G>A (p.Val369Met) rs730882097
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1187-14C>T rs1284033782
NM_000527.4(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.4(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
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.1402G>A (p.Val468Ile) rs5932
NM_000527.4(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.4(LDLR):c.1435C>G (p.Leu479Val) rs1254928151
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.1540G>T (p.Glu514Ter) rs1555805507
NM_000527.4(LDLR):c.1547G>A (p.Gly516Asp) rs730882104
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)
NM_000527.4(LDLR):c.1659C>G (p.Tyr553Ter) rs564258872
NM_000527.4(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.4(LDLR):c.1700C>A (p.Thr567Asn) rs1555806098
NM_000527.4(LDLR):c.1706-1G>C rs879254996
NM_000527.4(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.4(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.4(LDLR):c.1808dup (p.Arg604fs) rs1555806526
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.1988-17C>T rs373531246
NM_000527.4(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2233_2291del (p.Pro745fs) rs1555808094
NM_000527.4(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.4(LDLR):c.2311+10G>A rs1568614967
NM_000527.4(LDLR):c.2356A>G (p.Ser786Gly) rs730882114
NM_000527.4(LDLR):c.2398G>A (p.Val800Ile) rs200243555
NM_000527.4(LDLR):c.2478C>T (p.Pro826=) rs774831273
NM_000527.4(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.4(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.313+3A>C rs1064793799
NM_000527.4(LDLR):c.314C>T (p.Pro105Leu) rs730882079
NM_000527.4(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.4(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.4(LDLR):c.417C>T (p.Asp139=) rs537484504
NM_000527.4(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.567G>C (p.Val189=) rs753329861
NM_000527.4(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.4(LDLR):c.67+18C>A rs17242759
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.4(LDLR):c.772del (p.Glu258fs) rs1568596962
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.827G>C (p.Cys276Ser) rs730882089
NM_000527.4(LDLR):c.853C>T (p.His285Tyr)
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.908G>A (p.Arg303Gln) rs730882093
NM_000527.4(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.4(LDLR):c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp) rs1555803913
NM_000527.4(LDLR):c.940+9C>T
NM_000527.4(LDLR):c.988A>C (p.Asn330His) rs730882095
NM_000527.4(LDLR):c.993C>T (p.Asp331=) rs147905921
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1038G>A (p.Leu346=) rs769228441
NM_000527.5(LDLR):c.1047G>A (p.Gln349=) rs986687163
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-1G>C rs879254774
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1179G>A (p.Lys393=) rs879254816
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1187-7C>T rs773740254
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.5(LDLR):c.1263C>T (p.Ser421=) rs752942769
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1290C>T (p.Val430=) rs1568603661
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.5(LDLR):c.134T>G (p.Val45Gly) rs1600700584
NM_000527.5(LDLR):c.1355G>T (p.Cys452Phe) rs1365474464
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1371C>T (p.Asp457=) rs1600727269
NM_000527.5(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer) rs1600727285
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1515C>T (p.Gly505=) rs780757228
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1586+4C>T
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1586+9C>G rs1600728459
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1747C>G (p.His583Asp) rs730882109
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.1845+15C>T rs759867686
NM_000527.5(LDLR):c.1846-8C>T rs1600742028
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1869C>A (p.Ile623=) rs765202964
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.191-5T>C rs770931363
NM_000527.5(LDLR):c.1939C>T (p.Leu647=) rs1600742572
NM_000527.5(LDLR):c.1941G>A (p.Leu647=) rs1466421592
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.5(LDLR):c.1987+10G>T rs375846192
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2025C>T (p.Gly675=) rs778781895
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.5(LDLR):c.2073G>A (p.Ser691=) rs146869252
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu) rs759858813
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2190G>A (p.Lys730=) rs1430407684
NM_000527.5(LDLR):c.2208A>T (p.Val736=) rs1600751949
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2389+10G>A rs780920371
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2390-10C>T rs1600764877
NM_000527.5(LDLR):c.2390-16G>A rs183496025
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2472C>T (p.Asp824=) rs1309851194
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2512A>G (p.Ile838Val) rs1600765567
NM_000527.5(LDLR):c.2547+9C>T rs746674813
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.2580G>A (p.Ala860=) rs1285017808
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.303G>A (p.Glu101=) rs1600705245
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.399C>T (p.Asp133=)
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.504C>T (p.Asp168=) rs777321035
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.580A>G (p.Ser194Gly) rs373488885
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.625T>G (p.Cys209Gly) rs1600711065
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.5(LDLR):c.683A>C (p.Glu228Ala) rs879254642
NM_000527.5(LDLR):c.717C>T (p.Asp239=) rs1286110371
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.779_782del (p.Asp260fs) rs1600713742
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg) rs879254738
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser) rs879254746
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933
NM_001195798.2(LDLR):c.1476_1477CT[1] (p.Ser493fs) rs869025453
NM_001195798.2(LDLR):c.1811delinsCT (p.Arg604fs) rs1555806529
NM_001195798.2(LDLR):c.2271del (p.Leu759fs)
NM_001195798.2(LDLR):c.2478del (p.Val827fs) rs747344293
NM_001195798.2(LDLR):c.2548-5_2548-4del rs1555809910
NM_001195798.2(LDLR):c.820del (p.Thr274fs) rs751122998
NM_001195799.2(LDLR):c.190+2342del rs879254438
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-1941A>G rs730882084
NM_001195800.2(LDLR):c.314-1973del rs879254552
NM_001195800.2(LDLR):c.314-2019del rs1057516135
NM_001195800.2(LDLR):c.314-2026del rs1085307605
NM_001195800.2(LDLR):c.314-2076G>T rs730882083
NM_001195800.2(LDLR):c.314-2094A>G rs730882081
NM_001195800.2(LDLR):c.314-752_314-751delinsAC rs730882087
NM_001195803.2(LDLR):c.1606+265A>G rs730882112
NM_001195803.2(LDLR):c.1606+275G>A rs730882113

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