ClinVar Miner

List of variants studied for Brugada syndrome by Institute of Human Genetics, Heidelberg University

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812

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