ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by Center for Medical Genetics Ghent, University of Ghent

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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