ClinVar Miner

List of variants in gene DKC1 reported as pathogenic for Dyskeratosis congenita

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Total variants: 2
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HGVS dbSNP
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304

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