ClinVar Miner

List of variants reported for Brugada syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His) rs781646326 0.00004
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612

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