ClinVar Miner

List of variants in gene SCN5A studied for Cardiovascular phenotype

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Total variants: 210
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HGVS dbSNP
NM_000335.4(SCN5A):c.1008G>A (p.Pro336=) rs200285003
NM_000335.4(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_000335.4(SCN5A):c.1017C>T (p.Tyr339=) rs17215493
NM_000335.4(SCN5A):c.102C>T (p.Arg34=) rs41313239
NM_000335.4(SCN5A):c.1035C>T (p.Gly345=) rs764026969
NM_000335.4(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.4(SCN5A):c.1065C>T (p.Phe355=) rs45570333
NM_000335.4(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_000335.4(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_000335.4(SCN5A):c.1141-3C>A rs41312433
NM_000335.4(SCN5A):c.1188C>T (p.Val396=) rs749683415
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_000335.4(SCN5A):c.123G>C (p.Glu41Asp) rs1553607598
NM_000335.4(SCN5A):c.1262A>C (p.Gln421Pro) rs1553704745
NM_000335.4(SCN5A):c.1272C>T (p.Ile424=) rs267599794
NM_000335.4(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_000335.4(SCN5A):c.1335C>T (p.His445=) rs368045716
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1338+2T>A rs786204839
NM_000335.4(SCN5A):c.1381T>G (p.Leu461Val) rs41313697
NM_000335.4(SCN5A):c.1405G>A (p.Val469Ile) rs371911318
NM_000335.4(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.4(SCN5A):c.1537C>T (p.Arg513Cys) rs145733679
NM_000335.4(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_000335.4(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_000335.4(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_000335.4(SCN5A):c.1598G>A (p.Arg533His) rs146848219
NM_000335.4(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.4(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_000335.4(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_000335.4(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.4(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.4(SCN5A):c.1755C>T (p.His585=) rs201024847
NM_000335.4(SCN5A):c.1813G>A (p.Gly605Arg) rs1553704001
NM_000335.4(SCN5A):c.1820G>T (p.Gly607Val) rs757119370
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112
NM_000335.4(SCN5A):c.1889C>T (p.Thr630Met) rs777061524
NM_000335.4(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.4(SCN5A):c.1902G>A (p.Ser634=) rs764360705
NM_000335.4(SCN5A):c.1914C>T (p.Gly638=) rs764488677
NM_000335.4(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_000335.4(SCN5A):c.2001C>T (p.Ser667=) rs587781161
NM_000335.4(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_000335.4(SCN5A):c.2023+1G>A rs1553703211
NM_000335.4(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.4(SCN5A):c.2066G>A (p.Arg689His) rs199473145
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147
NM_000335.4(SCN5A):c.2103G>A (p.Pro701=) rs564847999
NM_000335.4(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_000335.4(SCN5A):c.2184A>T (p.Val728=) rs886039142
NM_000335.4(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.4(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_000335.4(SCN5A):c.2275A>T (p.Ile759Phe) rs199473155
NM_000335.4(SCN5A):c.2313C>T (p.Leu771=) rs876657580
NM_000335.4(SCN5A):c.2390G>T (p.Gly797Val) rs987266626
NM_000335.4(SCN5A):c.23G>A (p.Arg8Gln) rs564261427
NM_000335.4(SCN5A):c.2432G>A (p.Arg811His) rs769349991
NM_000335.4(SCN5A):c.2437-5C>A rs72549411
NM_000335.4(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.4(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.4(SCN5A):c.2484C>T (p.Leu828=) rs923903065
NM_000335.4(SCN5A):c.251A>T (p.Asp84Val) rs1462326368
NM_000335.4(SCN5A):c.2529A>G (p.Thr843=) rs771936542
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.4(SCN5A):c.2674T>C (p.Phe892Leu) rs199473170
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.4(SCN5A):c.280A>G (p.Ile94Val) rs202114798
NM_000335.4(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.4(SCN5A):c.3388-3T>C rs949932623
NM_000335.4(SCN5A):c.3495C>T (p.Asp1165=) rs1358339064
NM_000335.4(SCN5A):c.354C>T (p.His118=) rs45533640
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.357C>G (p.Pro119=) rs749556647
NM_000335.4(SCN5A):c.3618C>T (p.Phe1206=) rs184934308
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3627C>T (p.Phe1209=) rs962909965
NM_000335.4(SCN5A):c.3645A>T (p.Leu1215=) rs760539539
NM_000335.4(SCN5A):c.3723C>T (p.Ala1241=) rs61737829
NM_000335.4(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599
NM_000335.4(SCN5A):c.3748G>A (p.Val1250Met) rs199473600
NM_000335.4(SCN5A):c.3809G>A (p.Trp1270Ter) rs1553696647
NM_000335.4(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618
NM_000335.4(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.4(SCN5A):c.3880G>A (p.Glu1294Lys) rs199473218
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3909G>A (p.Thr1303=) rs764462471
NM_000335.4(SCN5A):c.3910C>T (p.Leu1304=) rs1553695779
NM_000335.4(SCN5A):c.3914G>T (p.Arg1305Leu) rs730880207
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.4(SCN5A):c.4015G>C (p.Val1339Leu) rs199473605
NM_000335.4(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133
NM_000335.4(SCN5A):c.4068G>A (p.Ala1356=) rs187370816
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.4167C>T (p.Thr1389=) rs747356664
NM_000335.4(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533
NM_000335.4(SCN5A):c.4178A>G (p.Tyr1393Cys) rs1553695248
NM_000335.4(SCN5A):c.4196T>G (p.Val1399Gly) rs1553695229
NM_000335.4(SCN5A):c.4209C>T (p.Asn1403=) rs397517954
NM_000335.4(SCN5A):c.4215G>A (p.Gly1405=) rs41311123
NM_000335.4(SCN5A):c.4243-4C>T rs772447988
NM_000335.4(SCN5A):c.4277C>A (p.Ala1426Glu) rs1335890539
NM_000335.4(SCN5A):c.4294G>T (p.Gly1432Trp) rs867001670
NM_000335.4(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220
NM_000335.4(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.4(SCN5A):c.4325A>G (p.Asn1442Ser) rs1473144775
NM_000335.4(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250
NM_000335.4(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) rs1553694426
NM_000335.4(SCN5A):c.4401C>T (p.Val1467=) rs766197312
NM_000335.4(SCN5A):c.4420del (p.Gln1474fs) rs886039018
NM_000335.4(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260
NM_000335.4(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.4(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.4(SCN5A):c.456C>T (p.Asp152=) rs190803993
NM_000335.4(SCN5A):c.4590C>T (p.Asp1530=) rs372507927
NM_000335.4(SCN5A):c.4626G>A (p.Val1542=) rs1444726385
NM_000335.4(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.4(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278
NM_000335.4(SCN5A):c.4832T>A (p.Ile1611Asn) rs1553693063
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.4(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.4(SCN5A):c.4874G>A (p.Arg1625His) rs199473283
NM_000335.4(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284
NM_000335.4(SCN5A):c.4922G>A (p.Gly1641Glu) rs199473624
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.4932G>A (p.Thr1644=) rs376150162
NM_000335.4(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625
NM_000335.4(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294
NM_000335.4(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5169G>A (p.Gly1723=) rs1553692900
NM_000335.4(SCN5A):c.5199C>T (p.Asn1733=) rs368980118
NM_000335.4(SCN5A):c.5236G>A (p.Val1746Met) rs199473630
NM_000335.4(SCN5A):c.5295G>A (p.Met1765Ile) rs1553692822
NM_000335.4(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311
NM_000335.4(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.4(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5364C>T (p.Asp1788=) rs375752426
NM_000335.4(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897
NM_000335.4(SCN5A):c.5424T>C (p.Ile1808=) rs769534824
NM_000335.4(SCN5A):c.5451C>T (p.Ala1817=) rs370114378
NM_000335.4(SCN5A):c.5454T>C (p.Asp1818=) rs1805126
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5521A>G (p.Met1841Val) rs368967393
NM_000335.4(SCN5A):c.552C>G (p.His184Gln) rs770959082
NM_000335.4(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.4(SCN5A):c.5546G>C (p.Cys1849Ser) rs199473322
NM_000335.4(SCN5A):c.5554A>G (p.Ile1852Val) rs1348016844
NM_000335.4(SCN5A):c.5589G>T (p.Glu1863Asp) rs794728899
NM_000335.4(SCN5A):c.5687G>A (p.Arg1896Gln) rs761369505
NM_000335.4(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5709G>A (p.Ser1903=) rs376826051
NM_000335.4(SCN5A):c.5718T>C (p.Val1906=) rs1553692515
NM_000335.4(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.4(SCN5A):c.5735G>A (p.Arg1912His) rs199473327
NM_000335.4(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328
NM_000335.4(SCN5A):c.5783G>A (p.Arg1928His) rs727504822
NM_000335.4(SCN5A):c.5793G>A (p.Ala1931=) rs200594132
NM_000335.4(SCN5A):c.5793G>C (p.Ala1931=) rs200594132
NM_000335.4(SCN5A):c.5799C>T (p.Ser1933=) rs375254452
NM_000335.4(SCN5A):c.580A>G (p.Asn194Asp) rs1553605677
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956
NM_000335.4(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638
NM_000335.4(SCN5A):c.5885C>T (p.Pro1962Leu) rs756617804
NM_000335.4(SCN5A):c.5886C>T (p.Pro1962=) rs889590315
NM_000335.4(SCN5A):c.6000C>T (p.Leu2000=) rs538707712
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.4(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_000335.4(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.681G>A (p.Leu227=) rs369623575
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000335.4(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000335.4(SCN5A):c.726C>A (p.Ala242=) rs746812420
NM_000335.4(SCN5A):c.744G>A (p.Lys248=) rs45453395
NM_000335.4(SCN5A):c.801C>T (p.Ile267=) rs45587735
NM_000335.4(SCN5A):c.818T>A (p.Met273Lys) rs200076065
NM_000335.4(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000335.4(SCN5A):c.864C>T (p.Asn288=) rs373728726
NM_000335.4(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_000335.4(SCN5A):c.895T>A (p.Leu299Met) rs199473087
NM_000335.4(SCN5A):c.934+4C>T rs182050752
NM_000335.4(SCN5A):c.944T>C (p.Leu315Pro) rs199473564
NM_000335.4(SCN5A):c.990T>G (p.Ser330=) rs779310644
NM_000335.4(SCN5A):c.998+5G>A rs187531872
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)

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