ClinVar Miner

List of variants in gene SCN5A studied for Congenital long QT syndrome

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Total variants: 160
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HGVS dbSNP
NM_198056.2(SCN5A):c.1018C>T (p.Arg340Trp) rs199473094
NM_198056.2(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474
NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_198056.2(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_198056.2(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105
NM_198056.2(SCN5A):c.1211T>A (p.Leu404Gln) rs199473107
NM_198056.2(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_198056.2(SCN5A):c.1218C>G (p.Asn406Lys) rs199473108
NM_198056.2(SCN5A):c.1225C>G (p.Leu409Val) rs199473109
NM_198056.2(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_198056.2(SCN5A):c.1237G>A (p.Ala413Thr) rs199473110
NM_198056.2(SCN5A):c.1238C>A (p.Ala413Glu) rs199473569
NM_198056.2(SCN5A):c.128G>A (p.Arg43Gln) rs199473047
NM_198056.2(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572
NM_198056.2(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_198056.2(SCN5A):c.142G>A (p.Glu48Lys) rs199473048
NM_198056.2(SCN5A):c.154C>T (p.Pro52Ser) rs199473553
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_198056.2(SCN5A):c.1588T>G (p.Phe530Val) rs199473120
NM_198056.2(SCN5A):c.158G>A (p.Arg53Gln) rs199473049
NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121
NM_198056.2(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576
NM_198056.2(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126
NM_198056.2(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_198056.2(SCN5A):c.1717C>G (p.Gln573Glu) rs199473127
NM_198056.2(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_198056.2(SCN5A):c.1910C>T (p.Pro637Leu) rs199473135
NM_198056.2(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136
NM_198056.2(SCN5A):c.1915G>C (p.Gly639Arg) rs199473136
NM_198056.2(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_198056.2(SCN5A):c.1960G>A (p.Glu654Lys) rs199473138
NM_198056.2(SCN5A):c.2018T>C (p.Leu673Pro) rs199473141
NM_198056.2(SCN5A):c.2065C>T (p.Arg689Cys) rs199473580
NM_198056.2(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146
NM_198056.2(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147
NM_198056.2(SCN5A):c.2126G>T (p.Gly709Val) rs199473581
NM_198056.2(SCN5A):c.2192C>T (p.Thr731Ile) rs199473150
NM_198056.2(SCN5A):c.2249A>G (p.Gln750Arg) rs199473152
NM_198056.2(SCN5A):c.2275A>T (p.Ile759Phe) rs199473155
NM_198056.2(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157
NM_198056.2(SCN5A):c.2335C>A (p.Gln779Lys) rs199473583
NM_198056.2(SCN5A):c.2423G>C (p.Arg808Pro) rs199473160
NM_198056.2(SCN5A):c.2447T>A (p.Phe816Tyr) rs199473162
NM_198056.2(SCN5A):c.2518G>C (p.Gly840Arg) rs199473585
NM_198056.2(SCN5A):c.2527A>G (p.Thr843Ala) rs199473165
NM_198056.2(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166
NM_198056.2(SCN5A):c.26G>T (p.Gly9Val) rs199473043
NM_198056.2(SCN5A):c.310C>G (p.Arg104Gly) rs199473055
NM_198056.2(SCN5A):c.337G>A (p.Val113Ile) rs199473555
NM_198056.2(SCN5A):c.3413A>C (p.Glu1138Ala) rs199473198
NM_198056.2(SCN5A):c.343A>G (p.Ser115Gly) rs199473057
NM_198056.2(SCN5A):c.3496G>A (p.Asp1166Asn) rs199473594
NM_198056.2(SCN5A):c.3523C>T (p.Arg1175Cys) rs199473200
NM_198056.2(SCN5A):c.3556G>A (p.Ala1186Thr) rs199473595
NM_198056.2(SCN5A):c.3560C>T (p.Pro1187Leu) rs199473201
NM_198056.2(SCN5A):c.3596A>C (p.Tyr1199Ser) rs199473202
NM_198056.2(SCN5A):c.3673G>A (p.Glu1225Lys) rs199473204
NM_198056.2(SCN5A):c.3691G>A (p.Glu1231Lys) rs199473598
NM_198056.2(SCN5A):c.3722A>C (p.Tyr1241Ser) rs199473212
NM_198056.2(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_198056.2(SCN5A):c.3833T>A (p.Ile1278Asn) rs199473215
NM_198056.2(SCN5A):c.3847C>A (p.Leu1283Met) rs199473216
NM_198056.2(SCN5A):c.3883G>A (p.Glu1295Lys) rs199473218
NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met) rs199473603
NM_198056.2(SCN5A):c.3974A>G (p.Asn1325Ser) rs28937317
NM_198056.2(SCN5A):c.3976G>T (p.Ala1326Ser) rs199473222
NM_198056.2(SCN5A):c.3985G>A (p.Gly1329Ser) rs199473223
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.3988G>C (p.Ala1330Pro) rs199473224
NM_198056.2(SCN5A):c.3998C>A (p.Ser1333Tyr) rs199473604
NM_198056.2(SCN5A):c.4000A>G (p.Ile1334Val) rs199473226
NM_198056.2(SCN5A):c.4012C>G (p.Leu1338Val) rs199473227
NM_198056.2(SCN5A):c.4296G>C (p.Arg1432Ser) rs199473246
NM_198056.2(SCN5A):c.4373C>A (p.Ser1458Tyr) rs199473253
NM_198056.2(SCN5A):c.4415A>G (p.Asn1472Ser) rs199473255
NM_198056.2(SCN5A):c.4418T>C (p.Phe1473Ser) rs199473256
NM_198056.2(SCN5A):c.4418T>G (p.Phe1473Cys) rs199473256
NM_198056.2(SCN5A):c.4442G>A (p.Gly1481Glu) rs199473257
NM_198056.2(SCN5A):c.4459A>C (p.Met1487Leu) rs199473258
NM_198056.2(SCN5A):c.4463C>G (p.Thr1488Arg) rs199473259
NM_198056.2(SCN5A):c.4467G>T (p.Glu1489Asp) rs199473616
NM_198056.2(SCN5A):c.4478A>G (p.Lys1493Arg) rs199473260
NM_198056.2(SCN5A):c.4484A>C (p.Tyr1495Ser) rs199473262
NM_198056.2(SCN5A):c.4492A>G (p.Met1498Val) rs199473264
NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) rs199473263
NM_198056.2(SCN5A):c.4500G>T (p.Lys1500Asn) rs199473265
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4507T>C (p.Ser1503Pro) rs199473342
NM_198056.2(SCN5A):c.4515G>T (p.Lys1505Asn) rs199473268
NM_198056.2(SCN5A):c.4594G>A (p.Val1532Ile) rs199473618
NM_198056.2(SCN5A):c.4680G>C (p.Leu1560Phe) rs199473619
NM_198056.2(SCN5A):c.4779C>G (p.Ile1593Met) rs199473276
NM_198056.2(SCN5A):c.4781T>C (p.Phe1594Ser) rs199473277
NM_198056.2(SCN5A):c.4786T>A (p.Phe1596Ile) rs199473278
NM_198056.2(SCN5A):c.4789G>A (p.Val1597Met) rs199473279
NM_198056.2(SCN5A):c.4826C>G (p.Ser1609Trp) rs199473622
NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln) rs137854600
NM_198056.2(SCN5A):c.4868G>T (p.Arg1623Leu) rs137854600
NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) rs199473283
NM_198056.2(SCN5A):c.4877G>C (p.Arg1626Pro) rs199473283
NM_198056.2(SCN5A):c.4892G>A (p.Gly1631Asp) rs199473285
NM_198056.2(SCN5A):c.4930C>T (p.Arg1644Cys) rs199473287
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.4934C>T (p.Thr1645Met) rs199473288
NM_198056.2(SCN5A):c.4948C>T (p.Leu1650Phe) rs199473290
NM_198056.2(SCN5A):c.4955T>C (p.Met1652Thr) rs199473291
NM_198056.2(SCN5A):c.4955T>G (p.Met1652Arg) rs199473291
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198056.2(SCN5A):c.4999G>A (p.Val1667Ile) rs199473293
NM_198056.2(SCN5A):c.5168C>A (p.Thr1723Asn) rs199473300
NM_198056.2(SCN5A):c.5174C>T (p.Pro1725Leu) rs199473301
NM_198056.2(SCN5A):c.5215C>T (p.Arg1739Trp) rs199473303
NM_198056.2(SCN5A):c.5236G>A (p.Ala1746Thr) rs199473306
NM_198056.2(SCN5A):c.5239G>A (p.Val1747Met) rs199473630
NM_198056.2(SCN5A):c.5281C>T (p.Leu1761Phe) rs199473307
NM_198056.2(SCN5A):c.5282T>A (p.Leu1761His) rs199473308
NM_198056.2(SCN5A):c.5287G>A (p.Val1763Met) rs199473631
NM_198056.2(SCN5A):c.528T>G (p.Ile176Met) rs199473064
NM_198056.2(SCN5A):c.5296A>C (p.Met1766Leu) rs199473310
NM_198056.2(SCN5A):c.5300A>G (p.Tyr1767Cys) rs199473632
NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) rs199473311
NM_198056.2(SCN5A):c.5314C>G (p.Leu1772Val) rs199473312
NM_198056.2(SCN5A):c.5320A>G (p.Asn1774Asp) rs199473633
NM_198056.2(SCN5A):c.5329G>A (p.Val1777Met) rs199473314
NM_198056.2(SCN5A):c.5336C>T (p.Thr1779Met) rs199473634
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5357T>A (p.Leu1786Gln) rs199473315
NM_198056.2(SCN5A):c.5369A>G (p.Asp1790Gly) rs199473317
NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys) rs137854614
NM_198056.2(SCN5A):c.53G>A (p.Arg18Gln) rs41311087
NM_198056.2(SCN5A):c.5405A>G (p.Asp1802Gly) rs199473318
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5470C>G (p.Pro1824Ala) rs199473319
NM_198056.2(SCN5A):c.5477G>A (p.Arg1826His) rs137854610
NM_198056.2(SCN5A):c.5516A>G (p.Asp1839Gly) rs199473321
NM_198056.2(SCN5A):c.553G>A (p.Ala185Thr) rs192113333
NM_198056.2(SCN5A):c.568C>G (p.Arg190Gly) rs199473068
NM_198056.2(SCN5A):c.569G>A (p.Arg190Gln) rs199473069
NM_198056.2(SCN5A):c.5701G>C (p.Glu1901Gln) rs199473325
NM_198056.2(SCN5A):c.5726A>G (p.Gln1909Arg) rs199473326
NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His) rs199473327
NM_198056.2(SCN5A):c.5845G>T (p.Ala1949Ser) rs199473330
NM_198056.2(SCN5A):c.5929T>A (p.Tyr1977Asn) rs199473334
NM_198056.2(SCN5A):c.6010T>G (p.Phe2004Val) rs41311117
NM_198056.2(SCN5A):c.6017C>G (p.Pro2006Arg) rs199473338
NM_198056.2(SCN5A):c.6034C>T (p.Arg2012Cys) rs199473640
NM_198056.2(SCN5A):c.635T>C (p.Leu212Pro) rs199473070
NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_198056.2(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_198056.2(SCN5A):c.674G>A (p.Arg225Gln) rs199473071
NM_198056.2(SCN5A):c.715A>G (p.Ile239Val) rs199473075
NM_198056.2(SCN5A):c.718G>A (p.Val240Met) rs199473076
NM_198056.2(SCN5A):c.733C>A (p.Gln245Lys) rs199473077
NM_198056.2(SCN5A):c.739G>C (p.Val247Leu) rs199473078
NM_198056.2(SCN5A):c.80G>A (p.Arg27His) rs199473045
NM_198056.2(SCN5A):c.825C>A (p.Asn275Lys) rs199473080
NM_198056.2(SCN5A):c.865G>A (p.Gly289Ser) rs199473084
NM_198056.2(SCN5A):c.89A>G (p.Glu30Gly) rs199473551

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