ClinVar Miner

List of variants studied for Brugada syndrome 1 by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663 0.00002
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys) rs1575853007
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) rs199473620
NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)

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