ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome by Blueprint Genetics

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Total variants: 5
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NM_001099404.1(SCN5A):c.4474_4476AAG[1] (p.Lys1493del) rs869025522
NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.4132G>A (p.Val1378Met) rs748312802
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) rs777689378

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