ClinVar Miner

List of variants studied for Dyskeratosis congenita, X-linked by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001363.5(DKC1):c.*6G>A rs1800533 0.10799
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893

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