ClinVar Miner

List of variants in gene CEP104 studied for not provided

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Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.567-153A>G rs7535887 0.93782
NM_014704.4(CEP104):c.1659+259C>T rs2368533 0.91621
NM_014704.4(CEP104):c.744A>G (p.Glu248=) rs1891941 0.91572
NM_014704.4(CEP104):c.1318-310G>C rs4648419 0.91570
NM_014704.4(CEP104):c.1486-132A>C rs6680017 0.91569
NM_014704.4(CEP104):c.490-103T>C rs2275821 0.91542
NM_014704.4(CEP104):c.736-192A>C rs1891939 0.91540
NM_014704.4(CEP104):c.736-186A>G rs1891940 0.91536
NM_014704.4(CEP104):c.427-165A>G rs6699785 0.91532
NM_014704.4(CEP104):c.114-204C>T rs4648346 0.91122
NM_014704.4(CEP104):c.*311_*312insA rs3838969 0.67848
NM_014704.4(CEP104):c.2151+43A>G rs2275832 0.67501
NM_014704.4(CEP104):c.2189-109T>C rs2275834 0.67404
NM_014704.4(CEP104):c.2662+62A>G rs6703035 0.67052
NM_014704.4(CEP104):c.2364+143C>T rs7530291 0.66623
NM_014704.4(CEP104):c.2663-91G>A rs4233019 0.65061
NM_014704.4(CEP104):c.2663-22A>G rs4648409 0.65055
NM_014704.4(CEP104):c.2662+137A>G rs6702935 0.65027
NM_014704.4(CEP104):c.2662+205A>T rs6702916 0.65023
NM_014704.4(CEP104):c.2151+273C>A rs6670916 0.63036
NM_014704.4(CEP104):c.2662+248C>A rs6662706 0.58123
NM_014704.4(CEP104):c.2189-132A>G rs4648344 0.54479
NM_014704.4(CEP104):c.-14-301G>A rs6693152 0.53839
NM_014704.4(CEP104):c.-14-246T>C rs6657021 0.53823
NM_014704.4(CEP104):c.-14-291C>G rs6668213 0.53823
NM_014704.4(CEP104):c.113+130A>G rs1539648 0.53696
NM_014704.4(CEP104):c.735+52T>C rs1539649 0.38952
NM_014704.4(CEP104):c.567-192A>G rs10797346 0.38935
NM_014704.4(CEP104):c.2152-11C>T rs6663840 0.38899
NM_014704.4(CEP104):c.113+294C>T rs1122613 0.37743
NM_014704.4(CEP104):c.287+294G>A rs66497905 0.37725
NM_014704.4(CEP104):c.114-218A>G rs3765778 0.37721
NM_014704.4(CEP104):c.287+193G>T rs12239252 0.37673
NM_014704.4(CEP104):c.1659+210del rs35801288 0.37566
NM_014704.4(CEP104):c.1486-130T>C rs6677381 0.36562
NM_014704.4(CEP104):c.1485+211G>C rs2887273 0.36407
NM_014704.4(CEP104):c.427-161A>G rs6699784 0.36382
NM_014704.4(CEP104):c.1317+202T>C rs7537951 0.33757
NM_014704.4(CEP104):c.287+117G>A rs12239253 0.33508
NM_014704.4(CEP104):c.-14-277G>A rs4507956 0.33338
NM_014704.4(CEP104):c.-14-48T>A rs3819006 0.33213
NM_014704.4(CEP104):c.-14-49T>A rs3819007 0.33213
NM_014704.4(CEP104):c.288-284G>A rs34401151 0.33203
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile) rs2275824 0.32901
NM_014704.4(CEP104):c.567-190G>T rs34211842 0.31293
NM_014704.4(CEP104):c.1317+46C>G rs12746541 0.31245
NM_014704.4(CEP104):c.2151+109G>A rs2275833 0.22614
NM_014704.4(CEP104):c.2572-227G>C rs11809965 0.21199
NM_014704.4(CEP104):c.113+291A>G rs72640928 0.20719
NM_014704.4(CEP104):c.1317+267C>T rs111640545 0.20171
NM_014704.4(CEP104):c.288-39G>A rs10492942 0.20137
NM_014704.4(CEP104):c.489+81G>A rs7538067 0.20039
NM_014704.4(CEP104):c.*309G>A rs34060840 0.16431
NM_014704.4(CEP104):c.2364+65G>A rs12759497 0.16425
NM_014704.4(CEP104):c.2364+337A>G rs16824124 0.16421
NM_014704.4(CEP104):c.114-79C>A rs10492943 0.13097
NM_014704.4(CEP104):c.2188+121C>T rs4648345 0.13081
NM_014704.4(CEP104):c.566+6A>T rs72848418 0.12842
NM_014704.4(CEP104):c.2364+219G>A rs9424309 0.12785
NM_014704.4(CEP104):c.2256-130C>T rs2275835 0.10772
NM_014704.4(CEP104):c.-14-187A>G rs4540587 0.09177
NM_014704.4(CEP104):c.2364+313G>A rs9424290 0.07625
NM_014704.4(CEP104):c.2571+226C>T rs2027548 0.06882
NM_014704.4(CEP104):c.1317+26A>C rs1270208925 0.05534
NM_014704.4(CEP104):c.1485+52G>A rs1109899 0.03885
NM_014704.4(CEP104):c.1486-87G>A rs58355219 0.03884
NM_014704.4(CEP104):c.2365-108C>T rs12084439 0.03883
NM_014704.4(CEP104):c.2571+127G>T rs59648769 0.03879
NM_014704.4(CEP104):c.1119+43A>G rs12084604 0.03869
NM_014704.4(CEP104):c.1313C>A (p.Thr438Asn) rs776187298 0.03483
NM_014704.4(CEP104):c.1318-281G>A rs11800962 0.03323
NM_014704.4(CEP104):c.1120-59C>G rs2275823 0.02541
NM_014704.4(CEP104):c.426+277A>T rs79722905 0.02336
NM_014704.4(CEP104):c.2152-42C>G rs58111155 0.02199
NM_014704.4(CEP104):c.2188+86G>A rs114208229 0.02143
NM_014704.4(CEP104):c.2365-144C>T rs2275836 0.02038
NM_014704.4(CEP104):c.114-80dup rs144847714 0.02008
NM_014704.4(CEP104):c.735+17A>G rs2298224 0.02006
NM_014704.4(CEP104):c.114-41C>T rs3765777 0.01983
NM_014704.4(CEP104):c.1317+2T>A rs770445221 0.01877
NM_014704.4(CEP104):c.1317+118G>A rs115574323 0.01747
NM_014704.4(CEP104):c.736-235A>G rs41450948 0.01512
NM_014704.4(CEP104):c.1485+30G>T rs112306922 0.01272
NM_014704.4(CEP104):c.2256-68G>A rs28617584 0.01257
NM_014704.4(CEP104):c.567-122G>A rs143529319 0.01247
NM_014704.4(CEP104):c.426+271C>T rs77163906 0.01129
NM_014704.4(CEP104):c.1485+273G>A rs116191502 0.01128
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709 0.01114
NM_014704.4(CEP104):c.2662+115T>C rs34049022 0.01068
NM_014704.4(CEP104):c.1119+144T>G rs115115143 0.01029
NM_014704.4(CEP104):c.1317+252A>C rs7540242 0.01022
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991 0.00830
NM_014704.4(CEP104):c.113+116C>T rs2275820 0.00751
NM_014704.4(CEP104):c.2663-114G>A rs117132607 0.00751
NM_014704.4(CEP104):c.1317+258G>A rs7526204 0.00666
NM_014704.4(CEP104):c.1659+241T>G rs577338561 0.00665
NM_014704.4(CEP104):c.1659+268T>C rs537527689 0.00662
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578 0.00658
NM_014704.4(CEP104):c.1120-178T>C rs189931705 0.00657
NM_014704.4(CEP104):c.113+154G>A rs535163589 0.00657
NM_014704.4(CEP104):c.113+337G>A rs145917811 0.00657
NM_014704.4(CEP104):c.114-114T>C rs114908029 0.00657
NM_014704.4(CEP104):c.114-121A>G rs138952911 0.00657
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364 0.00657
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848 0.00657
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817 0.00655
NM_014704.4(CEP104):c.1659+288T>A rs116017208 0.00655
NM_014704.4(CEP104):c.287+144T>C rs555804031 0.00648
NM_014704.4(CEP104):c.113+104C>T rs142962067 0.00639
NM_014704.4(CEP104):c.567-267C>T rs75668834 0.00563
NM_014704.4(CEP104):c.490-130A>G rs138737177 0.00552
NM_014704.4(CEP104):c.567-38G>A rs55772418 0.00505
NM_014704.4(CEP104):c.2572-36G>A rs74049752 0.00498
NM_014704.4(CEP104):c.2152-278C>T rs113050588 0.00474
NM_014704.4(CEP104):c.2662+132T>C rs113757675 0.00468
NM_014704.4(CEP104):c.2571+74G>A rs186669023 0.00466
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr) rs76925798 0.00433
NM_014704.4(CEP104):c.1317+17A>C rs370703159 0.00363
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387 0.00305
NM_014704.4(CEP104):c.490-18G>A rs150128798 0.00289
NM_014704.4(CEP104):c.1317+28G>A rs2275825 0.00242
NM_014704.4(CEP104):c.1169A>G (p.His390Arg) rs145728798 0.00191
NM_014704.4(CEP104):c.588G>A (p.Pro196=) rs141751043 0.00173
NM_014704.4(CEP104):c.2365-286T>C rs543238063 0.00163
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met) rs138897239 0.00142
NM_014704.4(CEP104):c.2736C>T (p.Gly912=) rs148360595 0.00114
NM_014704.4(CEP104):c.2124A>G (p.Ala708=) rs139817583 0.00107
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) rs142899837 0.00050
NM_014704.4(CEP104):c.2439C>T (p.Tyr813=) rs78228821 0.00046
NM_014704.4(CEP104):c.843C>T (p.Ala281=) rs150027992 0.00046
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269 0.00044
NM_014704.4(CEP104):c.2621G>A (p.Arg874His) rs139076247 0.00041
NM_014704.4(CEP104):c.1653T>C (p.Phe551=) rs141730324 0.00039
NM_014704.4(CEP104):c.278G>A (p.Arg93Gln) rs199576006 0.00037
NM_014704.4(CEP104):c.2234C>T (p.Pro745Leu) rs201407033 0.00031
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn) rs537512159 0.00029
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln) rs146922115 0.00028
NM_014704.4(CEP104):c.626A>G (p.Glu209Gly) rs140029326 0.00028
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) rs144805659 0.00019
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_014704.4(CEP104):c.1120-5T>A rs200748628 0.00011
NM_014704.4(CEP104):c.2649G>A (p.Pro883=) rs747029336 0.00006
NM_014704.4(CEP104):c.1570C>T (p.His524Tyr) rs778672499 0.00005
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala) rs760840197 0.00005
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly) rs755406055 0.00004
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn) rs779086283 0.00004
NM_014704.4(CEP104):c.896G>A (p.Arg299Gln) rs199911672 0.00003
NM_014704.4(CEP104):c.2602G>A (p.Gly868Ser) rs1329373364 0.00002
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln) rs143501631 0.00001
NM_014704.4(CEP104):c.475G>A (p.Asp159Asn) rs754892174 0.00001
NM_014704.4(CEP104):c.729G>A (p.Leu243=) rs897283929 0.00001
NM_014704.4(CEP104):c.991G>A (p.Gly331Arg) rs776762216 0.00001
NM_014704.4(CEP104):c.*140G>A
NM_014704.4(CEP104):c.*1C>T rs12728401
NM_014704.4(CEP104):c.*38A>C
NM_014704.4(CEP104):c.*7G>A rs12729542
NM_014704.4(CEP104):c.-14-9TA[3] rs140077679
NM_014704.4(CEP104):c.1005G>C (p.Gln335His)
NM_014704.4(CEP104):c.1078G>A (p.Asp360Asn)
NM_014704.4(CEP104):c.1082C>T (p.Pro361Leu) rs369557437
NM_014704.4(CEP104):c.1083G>A (p.Pro361=) rs61740614
NM_014704.4(CEP104):c.113+140A>G rs1539647
NM_014704.4(CEP104):c.1138G>A (p.Asp380Asn)
NM_014704.4(CEP104):c.1163G>A (p.Arg388His)
NM_014704.4(CEP104):c.1317+188_1317+190del rs34181241
NM_014704.4(CEP104):c.1317+189_1317+190del rs34181241
NM_014704.4(CEP104):c.1317+190del rs34181241
NM_014704.4(CEP104):c.1317+3_1317+4dup rs36051675
NM_014704.4(CEP104):c.1317+3_1317+5dup rs36051675
NM_014704.4(CEP104):c.1317+3dup rs36051675
NM_014704.4(CEP104):c.1318-273C>A rs12093010
NM_014704.4(CEP104):c.1318-73del rs34966926
NM_014704.4(CEP104):c.1318-82dup rs34966926
NM_014704.4(CEP104):c.1372T>C (p.Leu458=) rs2124668627
NM_014704.4(CEP104):c.1403G>A (p.Gly468Glu)
NM_014704.4(CEP104):c.1473C>T (p.Asp491=)
NM_014704.4(CEP104):c.1593C>T (p.Pro531=)
NM_014704.4(CEP104):c.1658A>G (p.Gln553Arg)
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014704.4(CEP104):c.2152-127dup rs5772126
NM_014704.4(CEP104):c.2152-250dup rs111326389
NM_014704.4(CEP104):c.2152-83G>A rs6688969
NM_014704.4(CEP104):c.2255+108_2255+109del rs199670608
NM_014704.4(CEP104):c.2365-300A>G rs79797528
NM_014704.4(CEP104):c.2503+1G>A
NM_014704.4(CEP104):c.2572-283G>T rs79287741
NM_014704.4(CEP104):c.2572-46G>A rs188855232
NM_014704.4(CEP104):c.2663-173del rs35136906
NM_014704.4(CEP104):c.2674G>A (p.Ala892Thr)
NM_014704.4(CEP104):c.2683G>A (p.Ala895Thr)
NM_014704.4(CEP104):c.271C>T (p.Arg91Trp)
NM_014704.4(CEP104):c.287+204G>C rs184171642
NM_014704.4(CEP104):c.287+61_287+65dup rs371141201
NM_014704.4(CEP104):c.287+61dup rs371141201
NM_014704.4(CEP104):c.288-315C>T rs559068483
NM_014704.4(CEP104):c.288-82G>T rs113487532
NM_014704.4(CEP104):c.291C>T (p.Tyr97=)
NM_014704.4(CEP104):c.345A>T (p.Ser115=)
NM_014704.4(CEP104):c.426+175C>T rs12047360
NM_014704.4(CEP104):c.426+190_426+211dup rs535885590
NM_014704.4(CEP104):c.426+87del rs139277653
NM_014704.4(CEP104):c.427-148G>C rs111581286
NM_014704.4(CEP104):c.449T>C (p.Ile150Thr)
NM_014704.4(CEP104):c.48del (p.Asp17fs)
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser) rs140856596
NM_014704.4(CEP104):c.52G>A (p.Gly18Ser)
NM_014704.4(CEP104):c.558G>A (p.Thr186=) rs2275822
NM_014704.4(CEP104):c.566+191dup rs57165532
NM_014704.4(CEP104):c.643C>G (p.Arg215Gly)
NM_014704.4(CEP104):c.735+2T>C rs869025276
NM_014704.4(CEP104):c.735+98G>T rs2298225
NM_014704.4(CEP104):c.736-2A>T
NM_014704.4(CEP104):c.852C>A (p.Tyr284Ter) rs774609492
NM_014704.4(CEP104):c.852C>T (p.Tyr284=)
NM_014704.4(CEP104):c.926T>G (p.Leu309Arg)
NM_014704.4(CEP104):c.963G>A (p.Met321Ile)

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