ClinVar Miner

List of variants in gene CTC1 reported as uncertain significance for Dyskeratosis congenita

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP
NM_025099.6(CTC1):c.*1042T>C
NM_025099.6(CTC1):c.*1046T>C rs550911189
NM_025099.6(CTC1):c.*1052T>G
NM_025099.6(CTC1):c.*1053T>C
NM_025099.6(CTC1):c.*1061C>T
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C
NM_025099.6(CTC1):c.*1201T>C rs886053603
NM_025099.6(CTC1):c.*1204T>C rs886053602
NM_025099.6(CTC1):c.*1286A>G rs886053601
NM_025099.6(CTC1):c.*1308T>A
NM_025099.6(CTC1):c.*1410A>G
NM_025099.6(CTC1):c.*1420A>T
NM_025099.6(CTC1):c.*1438C>G rs141383858
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1475A>G rs745973862
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T
NM_025099.6(CTC1):c.*1578T>A
NM_025099.6(CTC1):c.*1600T>A
NM_025099.6(CTC1):c.*1603T>A
NM_025099.6(CTC1):c.*1630G>A
NM_025099.6(CTC1):c.*1711A>G
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1852G>A rs559541027
NM_025099.6(CTC1):c.*1853G>A rs540866407
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1861A>G rs868663416
NM_025099.6(CTC1):c.*1867G>A
NM_025099.6(CTC1):c.*1868C>A
NM_025099.6(CTC1):c.*1964G>A
NM_025099.6(CTC1):c.*1994A>G
NM_025099.6(CTC1):c.*2007A>G rs886053591
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A
NM_025099.6(CTC1):c.*2090G>A
NM_025099.6(CTC1):c.*2146G>A
NM_025099.6(CTC1):c.*218T>G rs886053607
NM_025099.6(CTC1):c.*2242G>A
NM_025099.6(CTC1):c.*2296T>A rs777042904
NM_025099.6(CTC1):c.*2337G>A
NM_025099.6(CTC1):c.*234C>T rs570408909
NM_025099.6(CTC1):c.*2353A>G rs559152657
NM_025099.6(CTC1):c.*2425T>C
NM_025099.6(CTC1):c.*2498G>A
NM_025099.6(CTC1):c.*2530G>A
NM_025099.6(CTC1):c.*2536C>T
NM_025099.6(CTC1):c.*2685C>T rs886053588
NM_025099.6(CTC1):c.*2725T>A
NM_025099.6(CTC1):c.*274C>T
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2842G>A
NM_025099.6(CTC1):c.*286G>A rs886053606
NM_025099.6(CTC1):c.*2926G>C
NM_025099.6(CTC1):c.*305G>A
NM_025099.6(CTC1):c.*3079C>T
NM_025099.6(CTC1):c.*3186G>A rs8072826
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*384G>A
NM_025099.6(CTC1):c.*429C>T
NM_025099.6(CTC1):c.*445A>T
NM_025099.6(CTC1):c.*474G>A
NM_025099.6(CTC1):c.*509C>T
NM_025099.6(CTC1):c.*536T>G rs533538191
NM_025099.6(CTC1):c.*558G>A rs112446369
NM_025099.6(CTC1):c.*642A>G
NM_025099.6(CTC1):c.*64T>G rs886053609
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A
NM_025099.6(CTC1):c.*759A>G
NM_025099.6(CTC1):c.*797C>T rs142486253
NM_025099.6(CTC1):c.*808G>A
NM_025099.6(CTC1):c.*825C>T rs3027248
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr)
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe) rs745499039
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln) rs371166242
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu) rs561782597
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala)
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His)
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys)
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe)
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys)
NM_025099.6(CTC1):c.1166G>A (p.Arg389His) rs758605320
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln) rs755414520
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr)
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly)
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680
NM_025099.6(CTC1):c.1207-4C>T rs369904656
NM_025099.6(CTC1):c.1207-7C>A rs746123381
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr) rs765850921
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp) rs375293707
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val)
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val) rs781203515
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile)
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe)
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr)
NM_025099.6(CTC1):c.1379G>A (p.Arg460His)
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu) rs544760936
NM_025099.6(CTC1):c.1440-5C>T
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn)
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser)
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala)
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu)
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala)
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353
NM_025099.6(CTC1):c.1602C>A (p.His534Gln) rs1421770599
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp)
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del)
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys)
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser) rs202212634
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro) rs373690929
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys)
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg) rs371868360
NM_025099.6(CTC1):c.1710G>A (p.Lys570=)
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp)
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)
NM_025099.6(CTC1):c.1766G>A (p.Arg589His)
NM_025099.6(CTC1):c.1819-14T>G rs753627056
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val)
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr) rs766985115
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg)
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro)
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp)
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln)
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln)
NM_025099.6(CTC1):c.1946-6C>T rs369285521
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648
NM_025099.6(CTC1):c.1974G>T (p.Gln658His)
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn)
NM_025099.6(CTC1):c.1993G>A (p.Val665Met)
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)
NM_025099.6(CTC1):c.2029A>G (p.Met677Val)
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp) rs201006130
NM_025099.6(CTC1):c.2060+12G>A
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro)
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp) rs781720954
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys) rs376729433
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu)
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala)
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys)
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu) rs375914513
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu)
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys)
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser)
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val)
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser) rs780809830
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr) rs370102181
NM_025099.6(CTC1):c.2670-3C>G
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839
NM_025099.6(CTC1):c.2729C>A (p.Pro910His)
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val) rs771428933
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg)
NM_025099.6(CTC1):c.2758+4A>G
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr) rs376358881
NM_025099.6(CTC1):c.2785G>A (p.Val929Met)
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser)
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu)
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser)
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr) rs751570124
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser)
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val)
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp)
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln)
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu)
NM_025099.6(CTC1):c.3011+3C>T
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=)
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr)
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp)
NM_025099.6(CTC1):c.3156+6G>A rs1597374105
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His)
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg) rs760362880
NM_025099.6(CTC1):c.3221+5G>C
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met) rs1209523245
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu) rs1209523245
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr) rs1358175667
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg) rs1597373397
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg)
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr)
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val) rs536983035
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr)
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr) rs1597373346
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro)
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu) rs374284337
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser)
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn) rs755212243
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys) rs376216450
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile)
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu) rs1302492698
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro) rs748674791
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln)
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met)
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe)
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992
NM_025099.6(CTC1):c.421G>A (p.Val141Ile)
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys)
NM_025099.6(CTC1):c.466C>G (p.His156Asp)
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro)
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys)
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr) rs757366100
NM_025099.6(CTC1):c.52G>C (p.Asp18His)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn) rs751596403
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.562G>A (p.Val188Met)
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu)
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp)
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe)
NM_025099.6(CTC1):c.780C>T (p.Ser260=)
NM_025099.6(CTC1):c.787G>C (p.Val263Leu)
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr)
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp)
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.873C>G (p.Ile291Met)
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala)
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys)
NM_025099.6(CTC1):c.888G>T (p.Gln296His) rs199553763
NM_025099.6(CTC1):c.917G>A (p.Arg306His)
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu)

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