ClinVar Miner

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

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_198056.2(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_198056.2(SCN5A):c.260A>G (p.Tyr87Cys)
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3694C>T (p.Arg1232Trp) rs199473207
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198056.2(SCN5A):c.4190del (p.Lys1397fs) rs397514446
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4262G>A (p.Trp1421Ter) rs137854620
NM_198056.2(SCN5A):c.435C>A (p.Cys145Ter)
NM_198056.2(SCN5A):c.4471C>T (p.Gln1491Ter) rs1559727990
NM_198056.2(SCN5A):c.4534C>T (p.Arg1512Trp) rs137854602
NM_198056.2(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_198056.2(SCN5A):c.4720G>T (p.Glu1574Ter) rs199473620
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5383T>C (p.Tyr1795His) rs137854615
NM_198056.2(SCN5A):c.5385_5387dup (p.Glu1796_Ile1797insAsp) rs397514449
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.611+3_611+4dup rs397514252
NM_198056.2(SCN5A):c.845G>A (p.Arg282His) rs199473083
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]

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