ClinVar Miner

List of variants in gene WRAP53 reported as pathogenic for Dyskeratosis congenita, autosomal recessive, 3

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Total variants: 5
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NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) rs1597422298
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547

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