ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for Brugada syndrome (shorter-than-normal QT interval)

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter) rs1559738598
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.612-1G>A rs1200777248

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