ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 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_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_000335.5(SCN5A):c.104dup (p.Ser36fs)
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter) rs199473579
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys) rs1575853007
NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu) rs199473172
NM_000335.5(SCN5A):c.2787+2T>A rs2061653258
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter) rs1575751854
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs) rs794728918
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter) rs199473598
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter) rs587781159
NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) rs199473620
NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.611+3_611+4dup rs397514252
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]

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