ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive, 3

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Total variants: 12
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HGVS dbSNP
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.1359C>T (p.Pro453=) rs35082161
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_018081.2(WRAP53):c.1118del (p.Leu373fs)

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