ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive, 3 by UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini

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Total variants: 2
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NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) rs0
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) rs0

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