ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive 3 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741 0.00008
NM_001143992.2(WRAP53):c.956-6del rs773916846 0.00008
NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp) rs2074302817
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907

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