ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as likely pathogenic for Brugada syndrome

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000003.11:g.(?_38616768)_(38651475_?)dup
NM_000335.4(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_000335.4(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.4(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520

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