ClinVar Miner

List of variants in gene SCN5A reported as pathogenic for Dilated cardiomyopathy 1E

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Total variants: 7
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NM_000335.4(SCN5A):c.2548_2549GT[3] (p.Phe851fs) rs397514450
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_001160160.2(SCN5A):c.4714+66G>C rs137854607
NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) rs137854618
NM_198056.2(SCN5A):c.612-229T>G rs765669597

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