ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NM_001037.5(SCN1B):c.40+1_40+50del rs2064208734
NM_001037.5(SCN1B):c.449-1G>T
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037.5(SCN1B):c.591-12_606del

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