ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23109
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.*2135C>A rs45502793 0.04380
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_000335.5(SCN5A):c.*677G>A rs45458203 0.00177
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_000335.5(SCN5A):c.*889C>A rs546849670 0.00063
NM_000335.5(SCN5A):c.*920G>C rs561475141 0.00063
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly) rs199473068 0.00057
NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr) rs192113333 0.00049
NM_000335.5(SCN5A):c.*1074C>G rs776171341 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.*160G>A rs772585696 0.00039
NM_000335.5(SCN5A):c.*1568G>C rs45503498 0.00038
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.*747G>A rs763830252 0.00020
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572 0.00012
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=) rs375323548 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000335.5(SCN5A):c.*331T>C rs551399685 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000335.5(SCN5A):c.*1932C>T rs886058437 0.00006
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000335.5(SCN5A):c.*990T>C rs886058448 0.00005
NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln) rs199473047 0.00005
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp) rs199473303 0.00005
NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu) rs201002736 0.00005
NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile) rs199473126 0.00004
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu) rs199473078 0.00004
NM_000335.5(SCN5A):c.*663C>A rs540984871 0.00003
NM_000335.5(SCN5A):c.1800G>A (p.Val600=) rs758101066 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389 0.00003
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met) rs199473279 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000335.5(SCN5A):c.718G>A (p.Val240Met) rs199473076 0.00003
NM_000335.5(SCN5A):c.*1087G>A rs886058446 0.00002
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr) rs199473110 0.00002
NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val) rs199473120 0.00002
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln) rs199473049 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.5171C>T (p.Pro1724Leu) rs199473301 0.00002
NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met) rs199473314 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00001
NM_000335.5(SCN5A):c.-53+12C>T rs886058464 0.00001
NM_000335.5(SCN5A):c.1018C>T (p.Arg340Trp) rs199473094 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.154C>T (p.Pro52Ser) rs199473553 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576 0.00001
NM_000335.5(SCN5A):c.1717C>G (p.Gln573Glu) rs199473127 0.00001
NM_000335.5(SCN5A):c.2065C>T (p.Arg689Cys) rs199473580 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166 0.00001
NM_000335.5(SCN5A):c.3410A>C (p.Glu1137Ala) rs199473198 0.00001
NM_000335.5(SCN5A):c.3520C>T (p.Arg1174Cys) rs199473200 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3688G>A (p.Glu1230Lys) rs199473598 0.00001
NM_000335.5(SCN5A):c.3982G>A (p.Gly1328Ser) rs199473223 0.00001
NM_000335.5(SCN5A):c.4497G>T (p.Lys1499Asn) rs199473265 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.4931C>T (p.Thr1644Met) rs199473288 0.00001
NM_000335.5(SCN5A):c.5165C>A (p.Thr1722Asn) rs199473300 0.00001
NM_000335.5(SCN5A):c.5236G>A (p.Val1746Met) rs199473630 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000335.5(SCN5A):c.733C>A (p.Gln245Lys) rs199473077 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser) rs199473084 0.00001
NM_000335.5(SCN5A):c.*1048G>A rs886058447
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*290G>A rs886058457
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*486C>T rs886058455
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*705C>A rs886058452
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.-107G>A rs886058466
NM_000335.5(SCN5A):c.-70C>T rs886058465
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1211T>A (p.Leu404Gln) rs199473107
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1225C>G (p.Leu409Val) rs199473109
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1238C>A (p.Ala413Glu) rs199473569
NM_000335.5(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.1910C>T (p.Pro637Leu) rs199473135
NM_000335.5(SCN5A):c.1915G>C (p.Gly639Arg) rs199473136
NM_000335.5(SCN5A):c.1960G>A (p.Glu654Lys) rs199473138
NM_000335.5(SCN5A):c.2018T>C (p.Leu673Pro) rs199473141
NM_000335.5(SCN5A):c.2126G>T (p.Gly709Val) rs199473581
NM_000335.5(SCN5A):c.2192C>T (p.Thr731Ile) rs199473150
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2249A>G (p.Gln750Arg) rs199473152
NM_000335.5(SCN5A):c.2275A>T (p.Ile759Phe) rs199473155
NM_000335.5(SCN5A):c.2335C>A (p.Gln779Lys) rs199473583
NM_000335.5(SCN5A):c.2423G>C (p.Arg808Pro) rs199473160
NM_000335.5(SCN5A):c.2447T>A (p.Phe816Tyr) rs199473162
NM_000335.5(SCN5A):c.2518G>C (p.Gly840Arg) rs199473585
NM_000335.5(SCN5A):c.2527A>G (p.Thr843Ala) rs199473165
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.26G>T (p.Gly9Val) rs199473043
NM_000335.5(SCN5A):c.310C>G (p.Arg104Gly) rs199473055
NM_000335.5(SCN5A):c.337G>A (p.Val113Ile) rs199473555
NM_000335.5(SCN5A):c.343A>G (p.Ser115Gly) rs199473057
NM_000335.5(SCN5A):c.3493G>A (p.Asp1165Asn) rs199473594
NM_000335.5(SCN5A):c.3557C>T (p.Pro1186Leu) rs199473201
NM_000335.5(SCN5A):c.3593A>C (p.Tyr1198Ser) rs199473202
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys) rs199473204
NM_000335.5(SCN5A):c.3719A>C (p.Tyr1240Ser) rs199473212
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_000335.5(SCN5A):c.3830T>A (p.Ile1277Asn) rs199473215
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met) rs199473216
NM_000335.5(SCN5A):c.3880G>A (p.Glu1294Lys) rs199473218
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.3973G>T (p.Ala1325Ser) rs199473222
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.3985G>C (p.Ala1329Pro) rs199473224
NM_000335.5(SCN5A):c.3995C>A (p.Ser1332Tyr) rs199473604
NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.5(SCN5A):c.4009C>G (p.Leu1337Val) rs199473227
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly) rs775485359
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.4293G>C (p.Arg1431Ser) rs199473246
NM_000335.5(SCN5A):c.4370C>A (p.Ser1457Tyr) rs199473253
NM_000335.5(SCN5A):c.4412A>G (p.Asn1471Ser) rs199473255
NM_000335.5(SCN5A):c.4415T>C (p.Phe1472Ser) rs199473256
NM_000335.5(SCN5A):c.4415T>G (p.Phe1472Cys) rs199473256
NM_000335.5(SCN5A):c.4439G>A (p.Gly1480Glu) rs199473257
NM_000335.5(SCN5A):c.4460C>G (p.Thr1487Arg) rs199473259
NM_000335.5(SCN5A):c.4464G>T (p.Glu1488Asp) rs199473616
NM_000335.5(SCN5A):c.4481A>C (p.Tyr1494Ser) rs199473262
NM_000335.5(SCN5A):c.4489A>G (p.Met1497Val) rs199473264
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro) rs199473342
NM_000335.5(SCN5A):c.4512G>T (p.Lys1504Asn) rs199473268
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=) rs886058461
NM_000335.5(SCN5A):c.4677G>C (p.Leu1559Phe) rs199473619
NM_000335.5(SCN5A):c.4776C>G (p.Ile1592Met) rs199473276
NM_000335.5(SCN5A):c.4778T>C (p.Phe1593Ser) rs199473277
NM_000335.5(SCN5A):c.4823C>G (p.Ser1608Trp) rs199473622
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) rs137854600
NM_000335.5(SCN5A):c.4874G>C (p.Arg1625Pro) rs199473283
NM_000335.5(SCN5A):c.4889G>A (p.Gly1630Asp) rs199473285
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys) rs199473287
NM_000335.5(SCN5A):c.4945C>T (p.Leu1649Phe) rs199473290
NM_000335.5(SCN5A):c.4952T>C (p.Met1651Thr) rs199473291
NM_000335.5(SCN5A):c.4952T>G (p.Met1651Arg) rs199473291
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5233G>A (p.Ala1745Thr) rs199473306
NM_000335.5(SCN5A):c.5278C>T (p.Leu1760Phe) rs199473307
NM_000335.5(SCN5A):c.5279T>A (p.Leu1760His) rs199473308
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
NM_000335.5(SCN5A):c.528T>G (p.Ile176Met) rs199473064
NM_000335.5(SCN5A):c.5293A>C (p.Met1765Leu) rs199473310
NM_000335.5(SCN5A):c.5297A>G (p.Tyr1766Cys) rs199473632
NM_000335.5(SCN5A):c.5311C>G (p.Leu1771Val) rs199473312
NM_000335.5(SCN5A):c.5317A>G (p.Asn1773Asp) rs199473633
NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln) rs199473315
NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly) rs199473317
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.5402A>G (p.Asp1801Gly) rs199473318
NM_000335.5(SCN5A):c.5467C>G (p.Pro1823Ala) rs199473319
NM_000335.5(SCN5A):c.5513A>G (p.Asp1838Gly) rs199473321
NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln) rs199473325
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.5(SCN5A):c.5842G>T (p.Ala1948Ser) rs199473330
NM_000335.5(SCN5A):c.5926T>A (p.Tyr1976Asn) rs199473334
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.5972_5973dup (p.Ser1992fs)
NM_000335.5(SCN5A):c.5982C>A (p.Tyr1994Ter) rs794728941
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg) rs199473338
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000335.5(SCN5A):c.635T>C (p.Leu212Pro) rs199473070
NM_000335.5(SCN5A):c.715A>G (p.Ile239Val) rs199473075
NM_000335.5(SCN5A):c.825C>A (p.Asn275Lys) rs199473080
NM_000335.5(SCN5A):c.863A>G (p.Asn288Ser)
NM_000335.5(SCN5A):c.89A>G (p.Glu30Gly) rs199473551

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