ClinVar Miner

List of variants in gene SCN5A reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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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 0.23236
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.100C>T (p.Arg34Cys) rs6791924 0.03086
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.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
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.3508+10C>T rs41258454 0.00510
NM_000335.5(SCN5A):c.*1820C>G rs45610536 0.00458
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.*677G>A rs45458203 0.00177
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
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.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.*1414G>C rs74954894 0.00054
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.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000335.5(SCN5A):c.5181C>T (p.Cys1727=) rs193922726 0.00011
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000335.5(SCN5A):c.2598G>A (p.Ser866=) rs371173851 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000335.5(SCN5A):c.4590C>T (p.Asp1530=) rs372507927 0.00005
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=) rs45570333 0.00004
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000335.5(SCN5A):c.2496C>T (p.Ile832=) rs761287478 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_000335.5(SCN5A):c.5985C>T (p.Ser1995=) rs761751029 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=) rs371560571 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.2745C>T (p.Cys915=) rs372782494 0.00003
NM_000335.5(SCN5A):c.2787+10C>T rs1030956093 0.00003
NM_000335.5(SCN5A):c.482+10T>G rs762598150 0.00003
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=) rs376389170 0.00002
NM_000335.5(SCN5A):c.1764T>C (p.His588=) rs775985491 0.00002
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=) rs368167264 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=) rs587781162 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.3984C>T (p.Gly1328=) rs761384669 0.00002
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=) rs397517954 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=) rs727505094 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.5763G>A (p.Lys1921=) rs760280154 0.00002
NM_000335.5(SCN5A):c.5952C>T (p.Ser1984=) rs1005750243 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=) rs747600514 0.00001
NM_000335.5(SCN5A):c.1891-5C>T rs749081972 0.00001
NM_000335.5(SCN5A):c.1927C>T (p.Leu643=) rs878855286 0.00001
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=) rs2061655979 0.00001
NM_000335.5(SCN5A):c.3388-4A>G rs1224411450 0.00001
NM_000335.5(SCN5A):c.3495C>T (p.Asp1165=) rs1358339064 0.00001
NM_000335.5(SCN5A):c.3534T>C (p.Cys1178=) rs771226633 0.00001
NM_000335.5(SCN5A):c.360C>T (p.Ile120=) rs587781158 0.00001
NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=) rs367927086 0.00001
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=) rs373042738 0.00001
NM_000335.5(SCN5A):c.4806C>T (p.Ile1602=) rs769709544 0.00001
NM_000335.5(SCN5A):c.5019T>C (p.Phe1673=) rs1174642559 0.00001
NM_000335.5(SCN5A):c.5034C>T (p.Phe1678=) rs867169736 0.00001
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=) rs758998714 0.00001
NM_000335.5(SCN5A):c.5370C>T (p.Phe1790=) rs372380415 0.00001
NM_000335.5(SCN5A):c.54G>A (p.Arg18=) rs1285580985 0.00001
NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=) rs758289489 0.00001
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=) rs199687668 0.00001
NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=) rs754276826 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.72C>T (p.Ile24=) rs727503412 0.00001
NM_000335.5(SCN5A):c.786C>T (p.Ser262=) rs753246399 0.00001
NM_000335.5(SCN5A):c.840C>T (p.Cys280=) rs72549413 0.00001
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.1167C>T (p.Tyr389=) rs794728854
NM_000335.5(SCN5A):c.1173C>A (p.Ile391=) rs961251585
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.141C>G (p.Pro47=) rs571894716
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.1710C>G (p.Thr570=) rs1060504150
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1728C>G (p.Pro576=) rs1575800832
NM_000335.5(SCN5A):c.1728C>T (p.Pro576=) rs1575800832
NM_000335.5(SCN5A):c.1812G>T (p.Leu604=) rs1575800407
NM_000335.5(SCN5A):c.1863T>C (p.Pro621=) rs1575800173
NM_000335.5(SCN5A):c.2352C>T (p.Phe784=) rs1418584830
NM_000335.5(SCN5A):c.2781C>T (p.Asn927=) rs762246339
NM_000335.5(SCN5A):c.342C>T (p.Leu114=) rs879094574
NM_000335.5(SCN5A):c.3609C>T (p.His1203=) rs767617297
NM_000335.5(SCN5A):c.3624A>T (p.Thr1208=) rs1575748730
NM_000335.5(SCN5A):c.3627C>T (p.Phe1209=) rs962909965
NM_000335.5(SCN5A):c.3630C>T (p.Ile1210=) rs1267986781
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.4044C>T (p.Ser1348=) rs1575725164
NM_000335.5(SCN5A):c.4242+8C>T rs878855290
NM_000335.5(SCN5A):c.4296+9C>A rs572950088
NM_000335.5(SCN5A):c.4308G>A (p.Gln1436=) rs1575718543
NM_000335.5(SCN5A):c.4500G>T (p.Leu1500=) rs767615184
NM_000335.5(SCN5A):c.4614C>T (p.Cys1538=) rs1227371604
NM_000335.5(SCN5A):c.4638G>T (p.Val1546=) rs878855291
NM_000335.5(SCN5A):c.4695C>T (p.Leu1565=) rs727505094
NM_000335.5(SCN5A):c.4743G>C (p.Leu1581=) rs1575711581
NM_000335.5(SCN5A):c.5163C>T (p.Asn1721=) rs1575705969
NM_000335.5(SCN5A):c.5361G>A (p.Glu1787=) rs1575705184
NM_000335.5(SCN5A):c.5472C>T (p.Leu1824=) rs1253336819
NM_000335.5(SCN5A):c.5529T>C (p.Ser1843=) rs1575704476
NM_000335.5(SCN5A):c.5541C>T (p.Ile1847=) rs1575704426
NM_000335.5(SCN5A):c.576A>G (p.Pro192=) rs1227394755
NM_000335.5(SCN5A):c.5823T>G (p.Pro1941=) rs2125824674
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.5910T>C (p.Thr1970=) rs972777761
NM_000335.5(SCN5A):c.681G>A (p.Leu227=) rs369623575
NM_000335.5(SCN5A):c.726C>T (p.Ala242=) rs746812420
NM_000335.5(SCN5A):c.795C>T (p.Ala265=) rs527692731

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