ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1E by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607

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