ClinVar Miner

List of variants in gene CTC1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_025099.6(CTC1):c.1077+49T>C rs4791626 0.98988
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.1077+37A>G rs66582670 0.29942
NM_025099.6(CTC1):c.793-112T>A rs59922886 0.27836
NM_025099.6(CTC1):c.647+25A>G rs11655903 0.27813
NM_025099.6(CTC1):c.793-100A>G rs58532865 0.27809
NM_025099.6(CTC1):c.198-182C>T rs9896745 0.24871
NM_025099.6(CTC1):c.1945+132G>A rs3027234 0.15775
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_025099.6(CTC1):c.198-153C>T rs74252612 0.14992
NM_025099.6(CTC1):c.648-100G>T rs117819634 0.08423
NM_025099.6(CTC1):c.3222-37T>G rs73244850 0.05154
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2669+80T>C rs3027240 0.04061
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_025099.6(CTC1):c.2385+37C>T rs3027236 0.04040
NM_025099.6(CTC1):c.3515-28G>A rs3027244 0.02224
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_025099.6(CTC1):c.197+76A>G rs73244892 0.02138
NM_025099.6(CTC1):c.198-239T>C rs112291297 0.02136
NM_025099.6(CTC1):c.197+138G>T rs78780166 0.02135
NM_025099.6(CTC1):c.647+122G>A rs117470549 0.01739
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.198-316T>C rs111307754 0.01547
NM_025099.6(CTC1):c.2669+28A>C rs3027239 0.01478
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.2060+63G>A rs114263410 0.01435
NM_025099.6(CTC1):c.3221+72A>G rs111992807 0.01385
NM_025099.6(CTC1):c.3012-114C>G rs112540472 0.01384
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.1818+220T>C rs115527687 0.01156
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.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_025099.6(CTC1):c.2934-93T>C rs59940552 0.00620
NM_025099.6(CTC1):c.793-87G>A rs74649547 0.00619
NM_025099.6(CTC1):c.34-113A>G rs566277379 0.00305
NM_025099.6(CTC1):c.2669+36C>T rs76374044 0.00261
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
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.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808 0.00045
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.1479A>G (p.Gln493=) rs188654013 0.00018
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr) rs369078832 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180 0.00006
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys) rs367898339 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057 0.00003
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180 0.00003
NM_025099.6(CTC1):c.2721A>C (p.Leu907=) rs776568637 0.00003
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser) rs374857685 0.00001
NM_025099.6(CTC1):c.105T>C (p.Asn35=) rs775601506 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr) rs778524852 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter) rs760884555 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.2652C>T (p.Thr884=) rs764276520 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 0.00001
NM_025099.6(CTC1):c.2766G>A (p.Thr922=) rs775342727 0.00001
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His) rs748674791 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_025099.6(CTC1):c.*275G>A rs3027246
NM_025099.6(CTC1):c.104A>G (p.Asn35Ser) rs1597396885
NM_025099.6(CTC1):c.1064_1065del (p.Leu355fs) rs2151522778
NM_025099.6(CTC1):c.1099A>C (p.Asn367His) rs2095866519
NM_025099.6(CTC1):c.1207-2A>C rs2151520411
NM_025099.6(CTC1):c.1207-40T>G rs12603646
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.1245del (p.Thr416fs) rs1567609103
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.1396del (p.Leu466fs) rs1567608566
NM_025099.6(CTC1):c.1440-6G>A rs1049931158
NM_025099.6(CTC1):c.1766G>A (p.Arg589His) rs771224545
NM_025099.6(CTC1):c.1805_1811dup (p.Ala605fs) rs1555533840
NM_025099.6(CTC1):c.1818+166_1818+168del rs529633547
NM_025099.6(CTC1):c.1818+36C>T rs4792621
NM_025099.6(CTC1):c.1819-314del rs34772323
NM_025099.6(CTC1):c.1899G>T (p.Leu633=)
NM_025099.6(CTC1):c.197+150_197+151insTGT rs143793869
NM_025099.6(CTC1):c.197+235A>G rs73244891
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser) rs771821232
NM_025099.6(CTC1):c.2282T>G (p.Leu761Arg)
NM_025099.6(CTC1):c.2319C>G (p.Thr773=)
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.2607A>G (p.Gln869=)
NM_025099.6(CTC1):c.2700T>G (p.Ala900=) rs1597376096
NM_025099.6(CTC1):c.2718A>T (p.Thr906=)
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2847_2850del (p.Val948_Tyr949insTer) rs2151503678
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3241A>C (p.Thr1081Pro)
NM_025099.6(CTC1):c.3358C>T (p.Gln1120Ter) rs1986946690
NM_025099.6(CTC1):c.3594C>A (p.Cys1198Ter) rs2151496734
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
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.639C>G (p.Leu213=) rs1440938964
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.911C>T (p.Ser304Phe)

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