ClinVar Miner

List of variants in gene CTC1 studied for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe)
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln)
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu)
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782
NM_025099.6(CTC1):c.1166G>A (p.Arg389His)
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln)
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)
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
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp)
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.1280G>T (p.Gly427Val)
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586
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.139A>G (p.Lys47Glu)
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.1530C>T (p.Thr510=) rs376217684
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)
NM_025099.6(CTC1):c.1602C>A (p.His534Gln)
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.170A>G (p.Gln57Arg)
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser)
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr)
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405
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.1981G>A (p.Val661Ile) rs534923467
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp)
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032
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.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp)
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala)
NM_025099.6(CTC1):c.2266G>A (p.Val756Met)
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu)
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2476-7C>T rs189539795
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.248_251dup (p.His84fs)
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser)
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr)
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val)
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr)
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr)
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2933+3G>A rs878855127
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>C (p.Tyr991=) rs62637613
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3099dup (p.Val1034fs)
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242
NM_025099.6(CTC1):c.3156+6G>A
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076
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.320C>G (p.Pro107Arg)
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met)
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu)
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)
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val)
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr)
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu)
NM_025099.6(CTC1):c.34-9T>G rs201195157
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn)
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys)
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro)
NM_025099.6(CTC1):c.3515-10C>T rs200225342
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305
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.477G>T (p.Leu159=) rs200658590
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn)
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
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.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.888G>T (p.Gln296His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.