ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn) rs879123756
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747

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