ClinVar Miner

List of variants reported as uncertain significance 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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HGVS	dbSNP	gnomAD frequency
NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser)	rs763828661	0.00001
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp)	rs967111874

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