ClinVar Miner

List of variants in gene SCN5A studied for atrial fibrillation

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_000335.5(SCN5A):c.1335C>T (p.His445=) rs368045716 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn) rs763880032 0.00023
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser) rs199473116 0.00014
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.1333C>G (p.His445Asp) rs199473112 0.00011
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys) rs775576991 0.00010
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met) rs777061524 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val) rs765699394 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) rs562675882 0.00008
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111 0.00006
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys) rs375306544 0.00005
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His) rs374314562 0.00005
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu) rs755194086 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=) rs371560571 0.00003
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His) rs199473125 0.00003
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594 0.00003
NM_000335.5(SCN5A):c.1859G>A (p.Arg620His) rs746504626 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.2262+18C>G rs1011934257 0.00003
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile) rs199473197 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met) rs199473279 0.00003
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys) rs760837591 0.00003
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys) rs199473329 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr) rs199473110 0.00002
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115 0.00002
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=) rs376389170 0.00002
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=) rs368167264 0.00002
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His) rs199473596 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr) rs199473330 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser) rs199473085 0.00002
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys) rs760531609 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys) rs145733679 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.1595T>G (p.Phe532Cys) rs199473573 0.00001
NM_000335.5(SCN5A):c.1606G>C (p.Asp536His) rs1475895120 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576 0.00001
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) rs757119370 0.00001
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met) rs199473134 0.00001
NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser) rs753232371 0.00001
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr) rs1380959630 0.00001
NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp) rs762737339 0.00001
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys) rs764252430 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His) rs769349991 0.00001
NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys) rs199473167 0.00001
NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp) rs765698507 0.00001
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=) rs2061655979 0.00001
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly) rs1331765859 0.00001
NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser) rs371469522 0.00001
NM_000335.5(SCN5A):c.3410A>C (p.Glu1137Ala) rs199473198 0.00001
NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr) rs762810998 0.00001
NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr) rs993780673 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met) rs375509048 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln) rs765907469 0.00001
NM_000335.5(SCN5A):c.414G>A (p.Met138Ile) rs199473060 0.00001
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala) rs794728883 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys) rs918933961 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile) rs371651284 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn) rs772508476 0.00001
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr) rs764188413 0.00001
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) rs199473635 0.00001
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val) rs199473067 0.00001
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln) rs761369505 0.00001
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637 0.00001
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser) rs1484635042 0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980 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.786C>T (p.Ser262=) rs753246399 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000335.5(SCN5A):c.893G>A (p.Gly298Asp) rs759383134 0.00001
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1127G>T (p.Arg376Leu)
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg) rs761628195
NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser) rs1274970281
NM_000335.5(SCN5A):c.1498G>A (p.Glu500Lys) rs1060501148
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val) rs779486899
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=) rs2061958215
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val) rs199473155
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile) rs2061688177
NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg) rs1228779956
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu) rs747643709
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2662T>C (p.Phe888Leu) rs866956533
NM_000335.5(SCN5A):c.2683C>T (p.Leu895Phe)
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.274-5C>G rs773669619
NM_000335.5(SCN5A):c.2756T>C (p.Phe919Ser) rs794728868
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg) rs1390530399
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser) rs1169229420
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=) rs1375890695
NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met) rs1575748933
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3626T>C (p.Phe1209Ser) rs794728875
NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter)
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
NM_000335.5(SCN5A):c.3913C>G (p.Arg1305Gly) rs1403211358
NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile) rs1553695437
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu) rs794728889
NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu) rs2125826544
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val) rs774917987
NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu) rs1367727373
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn) rs2061022221
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His) rs2125825520
NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly) rs768246863
NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) rs199473324
NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val) rs2061017114
NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln) rs199473325
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp) rs2061011355
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn) rs781270220
NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup) rs1332941398
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile) rs41311117
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.760A>T (p.Met254Leu) rs2125910458
NM_000335.5(SCN5A):c.795C>T (p.Ala265=) rs527692731
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)

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