ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome by Blueprint Genetics

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000335.4(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.4(SCN5A):c.4129G>A (p.Val1377Met) rs748312802
NM_000335.4(SCN5A):c.4471_4473AAG[1] (p.Lys1492del) rs869025522
NM_000335.4(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441

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