ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome 1 by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.1850A>T (p.His617Leu) rs974947142
NM_001037.5(SCN1B):c.523G>T (p.Val175Leu) rs776213428
NM_006514.4(SCN10A):c.5140G>A (p.Val1714Ile) rs1553612991

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