ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_198056.2(SCN5A):c.1936del (p.Gln646fs) rs727505158

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