ClinVar Miner

List of variants in gene CTC1 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_025099.6(CTC1):c.*2338T>C rs8078338 0.40460
NM_025099.6(CTC1):c.*631T>G rs3027247 0.26879
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_025099.6(CTC1):c.*1807G>T rs3027251 0.06914
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_025099.6(CTC1):c.*1450G>A rs3027250 0.02223
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
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_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_025099.6(CTC1):c.*3231A>G rs139845972 0.00670
NM_025099.6(CTC1):c.*825C>T rs3027248 0.00659
NM_025099.6(CTC1):c.*2006T>C rs57270818 0.00633
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_025099.6(CTC1):c.*1369A>G rs150798403 0.00246
NM_025099.6(CTC1):c.*558G>A rs112446369 0.00150
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_025099.6(CTC1):c.*1844G>A rs3027252 0.00127
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025099.6(CTC1):c.*1205T>G rs183725401 0.00106
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.*3186G>A rs8072826 0.00081
NM_025099.6(CTC1):c.*2115C>G rs187344168 0.00072
NM_025099.6(CTC1):c.*234C>T rs570408909 0.00070
NM_025099.6(CTC1):c.*1410A>G rs570429563 0.00064
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.*1997dup rs141982483 0.00036
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.*1853G>A rs540866407 0.00034
NM_025099.6(CTC1):c.*460C>T rs371544637 0.00034
NM_025099.6(CTC1):c.*797C>T rs142486253 0.00033
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025099.6(CTC1):c.*536T>G rs533538191 0.00025
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.*1486C>T rs574706247 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.*1046T>C rs550911189 0.00016
NM_025099.6(CTC1):c.*2530G>A rs780560618 0.00016
NM_025099.6(CTC1):c.*1663G>A rs552635622 0.00015
NM_025099.6(CTC1):c.*1042T>C rs974655494 0.00014
NM_025099.6(CTC1):c.*64T>G rs886053609 0.00013
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_025099.6(CTC1):c.*1630G>A rs77202978 0.00012
NM_025099.6(CTC1):c.*1201T>C rs886053603 0.00010
NM_025099.6(CTC1):c.*1475A>G rs745973862 0.00010
NM_025099.6(CTC1):c.*1573A>G rs546867578 0.00010
NM_025099.6(CTC1):c.*1861A>G rs868663416 0.00010
NM_025099.6(CTC1):c.*2106G>T rs192934640 0.00009
NM_025099.6(CTC1):c.*2353A>G rs559152657 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.*474G>A rs139392724 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.*1711A>G rs563822041 0.00007
NM_025099.6(CTC1):c.*2842G>A rs1035127593 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_025099.6(CTC1):c.*2146G>A rs773269538 0.00005
NM_025099.6(CTC1):c.*2296T>A rs777042904 0.00005
NM_025099.6(CTC1):c.*3079C>T rs890664978 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.*1964G>A rs1167690919 0.00004
NM_025099.6(CTC1):c.*2007A>G rs886053591 0.00004
NM_025099.6(CTC1):c.*218T>G rs886053607 0.00004
NM_025099.6(CTC1):c.*327C>T rs569217905 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_025099.6(CTC1):c.*1286A>G rs886053601 0.00003
NM_025099.6(CTC1):c.*1438C>G rs141383858 0.00003
NM_025099.6(CTC1):c.*1852G>A rs559541027 0.00003
NM_025099.6(CTC1):c.*445A>T rs977398110 0.00003
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys) rs764799661 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.*2685C>T rs886053588 0.00002
NM_025099.6(CTC1):c.*642A>G rs1282456436 0.00002
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_025099.6(CTC1):c.*1061C>T rs1240025210 0.00001
NM_025099.6(CTC1):c.*1204T>C rs886053602 0.00001
NM_025099.6(CTC1):c.*1578T>A rs535373058 0.00001
NM_025099.6(CTC1):c.*1994A>G rs897034375 0.00001
NM_025099.6(CTC1):c.*207T>C rs774013108 0.00001
NM_025099.6(CTC1):c.*2337G>A rs1311396995 0.00001
NM_025099.6(CTC1):c.*286G>A rs886053606 0.00001
NM_025099.6(CTC1):c.*305G>A rs1161700028 0.00001
NM_025099.6(CTC1):c.*384G>A rs912438390 0.00001
NM_025099.6(CTC1):c.*509C>T rs758527781 0.00001
NM_025099.6(CTC1):c.*759A>G rs1986820804 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1819-14T>G rs753627056 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys) rs758151645 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.780C>T (p.Ser260=) rs769988270 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_025099.6(CTC1):c.*1052T>G rs201297846
NM_025099.6(CTC1):c.*1053T>C rs1158073985
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1103C>A rs75272219
NM_025099.6(CTC1):c.*1105G>A rs141632364
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C rs540304901
NM_025099.6(CTC1):c.*1200T>C rs80097010
NM_025099.6(CTC1):c.*1308T>A rs574820085
NM_025099.6(CTC1):c.*1420A>T rs533674362
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1474G>A rs78517666
NM_025099.6(CTC1):c.*1474G>C rs78517666
NM_025099.6(CTC1):c.*1477G>A rs112336268
NM_025099.6(CTC1):c.*1477G>C rs112336268
NM_025099.6(CTC1):c.*1477G>T rs112336268
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T rs796651282
NM_025099.6(CTC1):c.*1594_*1597del rs886053597
NM_025099.6(CTC1):c.*1599_*1603delinsTGGAGAGAAATA rs886053596
NM_025099.6(CTC1):c.*1600T>A rs751150794
NM_025099.6(CTC1):c.*1603T>A rs763671822
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C rs3027251
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1867G>A rs961793089
NM_025099.6(CTC1):c.*1868C>A rs535981109
NM_025099.6(CTC1):c.*1960C>G rs11650309
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A rs772156574
NM_025099.6(CTC1):c.*2090G>A rs1033226989
NM_025099.6(CTC1):c.*2242G>A rs868833357
NM_025099.6(CTC1):c.*2364AT[3] rs886053589
NM_025099.6(CTC1):c.*2425T>C rs1986579685
NM_025099.6(CTC1):c.*2498G>A rs952734766
NM_025099.6(CTC1):c.*2536C>T rs1656306673
NM_025099.6(CTC1):c.*2725T>A rs1986555540
NM_025099.6(CTC1):c.*274C>T rs533383004
NM_025099.6(CTC1):c.*275G>A rs3027246
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2926G>C rs934312840
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*3255G>C rs8072663
NM_025099.6(CTC1):c.*429C>T rs1286225682
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A rs183099496
NM_025099.6(CTC1):c.*808G>A rs1986816320
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr) rs765850921
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.1440-5C>T rs1987573771
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu) rs1987110819
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=) rs1987021468
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.3221+5G>C rs1986987980
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu) rs567779457

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