ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_198056.2(SCN5A):c.1936delC (p.Gln646Argfs) rs727505158
NM_198056.2(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_198056.2(SCN5A):c.3995delC (p.Pro1332Argfs) rs727504801
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601

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