ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 10
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HGVS dbSNP
NM_000335.5(SCN5A):c.4243-2A>G
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)
NM_001099404.1(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_198056.2(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541
NM_198056.2(SCN5A):c.3573G>A (p.Trp1191Ter)
NM_198056.2(SCN5A):c.393-1C>T rs759235726
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_198056.2(SCN5A):c.704-2A>G rs1553705586

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