ClinVar Miner

List of variants reported as benign for Dyskeratosis congenita

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ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_018648.4(NOP10):c.55-15G>C rs422388 0.43627
NM_025099.6(CTC1):c.*2338T>C rs8078338 0.40460
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_025099.6(CTC1):c.*631T>G rs3027247 0.26879
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_025099.6(CTC1):c.*1807G>T rs3027251 0.06914
NM_001099274.3(TINF2):c.400-20_400-18dup rs58372573 0.06483
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_025099.6(CTC1):c.*1450G>A rs3027250 0.02223
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_017838.4(NHP2):c.160+16G>C rs41285577 0.01797
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_025099.6(CTC1):c.*2087A>G rs75503577 0.01557
NM_025099.6(CTC1):c.*43C>T rs3027245 0.01554
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638 0.01383
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311 0.00688
NM_025099.6(CTC1):c.*3231A>G rs139845972 0.00670
NM_025099.6(CTC1):c.*2006T>C rs57270818 0.00633
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532 0.00616
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_025099.6(CTC1):c.*2848A>C rs73975813 0.00571
NM_025099.6(CTC1):c.1617+11G>A rs114425026 0.00535
NM_025099.6(CTC1):c.*1668G>A rs114198389 0.00519
NM_025099.6(CTC1):c.*1041A>G rs148405704 0.00430
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_001099274.3(TINF2):c.1129+15T>A rs200599508 0.00197
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_022762.5(RMND5B):c.*1820A>G rs201653595 0.00188
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00166
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00162
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_001099274.3(TINF2):c.400-9C>T rs201087708 0.00128
NM_025099.6(CTC1):c.*1844G>A rs3027252 0.00127
NM_017838.4(NHP2):c.270A>G (p.Val90=) rs148179279 0.00121
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_001363.5(DKC1):c.771+13G>A rs201592812 0.00091
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001363.5(DKC1):c.172-12G>A rs376783942 0.00055
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) rs374320783 0.00030
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_001363.5(DKC1):c.915+8C>T rs200156434 0.00023
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356 0.00013
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308 0.00013
NM_001363.5(DKC1):c.978C>T (p.Gly326=) rs145325102 0.00013
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_001099274.3(TINF2):c.492A>G (p.Thr164=) rs781353658 0.00011
NM_025099.6(CTC1):c.3515-17C>T rs376402639 0.00008
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227 0.00004
NM_017838.4(NHP2):c.231-20_231-19del rs1491337170 0.00003
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_001363.5(DKC1):c.138G>A (p.Lys46=) rs369777662 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_001099274.3(TINF2):c.605-4del
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
NM_001363.5(DKC1):c.84+19G>T
NM_001363.5(DKC1):c.936G>A (p.Gly312=)
NM_017838.4(NHP2):c.160+11C>T rs201274409
NM_017838.4(NHP2):c.231-13dup
NM_017838.4(NHP2):c.231-17_231-16del rs572960228
NM_017838.4(NHP2):c.336+20del rs542745432
NM_025099.6(CTC1):c.*1200T>C rs80097010
NM_025099.6(CTC1):c.*1474G>A rs78517666
NM_025099.6(CTC1):c.*1960C>G rs11650309
NM_025099.6(CTC1):c.*275G>A rs3027246
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.647+12del rs755954781

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