ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome 1

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Total variants: 11
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NM_000335.4(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4853del (p.Pro1618fs)
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_198056.2(SCN5A):c.4813+3_4813+6dup rs886037904

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