ClinVar Miner

List of variants in gene SCN5A reported as likely benign for Brugada syndrome 1

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.1141-3C>A rs41312433 0.16821
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
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.4434+13C>T rs148598985 0.00361
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
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.354C>T (p.His118=) rs45533640 0.00207
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.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.*1284G>A rs41310755 0.00076
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.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493

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