ClinVar Miner

List of variants reported as benign for Dyskeratosis congenita

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Total variants: 75
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HGVS dbSNP
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.400-9C>T rs201087708
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018
NM_001363.5(DKC1):c.1409_1411AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104
NM_001363.5(DKC1):c.1494_1496GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_017838.3(NHP2):c.270A>G (p.Val90=) rs148179279
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_022762.5(RMND5B):c.*1791C>T rs139588879
NM_022762.5(RMND5B):c.*1792G>A rs115334254
NM_025099.6(CTC1):c.*1041A>G rs148405704
NM_025099.6(CTC1):c.*1200T>C
NM_025099.6(CTC1):c.*1450G>A
NM_025099.6(CTC1):c.*1474G>A rs78517666
NM_025099.6(CTC1):c.*1668G>A
NM_025099.6(CTC1):c.*1807G>T rs3027251
NM_025099.6(CTC1):c.*1844G>A rs3027252
NM_025099.6(CTC1):c.*1960C>G rs11650309
NM_025099.6(CTC1):c.*2006T>C
NM_025099.6(CTC1):c.*2087A>G rs75503577
NM_025099.6(CTC1):c.*2338T>C rs8078338
NM_025099.6(CTC1):c.*275G>A rs3027246
NM_025099.6(CTC1):c.*2848A>C
NM_025099.6(CTC1):c.*3231A>G rs139845972
NM_025099.6(CTC1):c.*43C>T rs3027245
NM_025099.6(CTC1):c.*631T>G rs3027247
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475
NM_025099.6(CTC1):c.1617+11G>A
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691
NM_025099.6(CTC1):c.197+15C>T
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504
NM_025099.6(CTC1):c.2386-13T>G rs3027237
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859
NM_025099.6(CTC1):c.435+3= rs6503093
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939

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