ClinVar Miner

List of variants reported as pathogenic for Brugada syndrome 5 by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.105del (p.Phe36fs)
NM_001037.5(SCN1B):c.178dup (p.Arg60fs)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.207+1G>A rs2064222084
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr) rs2151745332
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)
NM_001037.5(SCN1B):c.59dup (p.Cys21fs)
NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)

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