ClinVar Miner

List of variants reported as likely pathogenic for Dyskeratosis congenita

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Total variants: 16
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HGVS dbSNP
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_025099.6(CTC1):c.2386-1G>A
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080
NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile) rs370343781
NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) rs398123018
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596

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