ClinVar Miner

List of variants studied for Brugada syndrome by KardioGenetik, Herz- und Diabeteszentrum NRW

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.1551del (p.Thr518fs)
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.5469_5975del (p.Leu1824_Ser1992del)
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val) rs199473559

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