ClinVar Miner

List of variants reported as pathogenic for Dyskeratosis congenita

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Total variants: 36
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HGVS dbSNP
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.918+1G>T rs756132866
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_025099.6(CTC1):c.1065_1069CCTAT[1] (p.Ser357fs)
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) rs764019241
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs)
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) rs767991627
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs)
NM_025099.6(CTC1):c.2888del (p.Pro963fs)
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3099dup (p.Val1034fs) rs1597374251
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_032957.4(RTEL1):c.102+2T>C rs1555899111
NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.3442del (p.His1148fs) rs1555814400
NM_198253.2(TERT):c.2839T>C (p.Ser947Pro) rs915854031
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) rs372511089
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) rs1196160200

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