ClinVar Miner

List of variants in gene CCDC39 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 290
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_181426.2(CCDC39):c.2159-16A>C rs147028259 0.00860
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495 0.00435
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972 0.00226
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) rs201157338 0.00159
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00156
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) rs200277460 0.00115
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp) rs771462228 0.00061
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) rs200422639 0.00059
NM_181426.2(CCDC39):c.900T>A (p.His300Gln) rs201684898 0.00057
NM_181426.2(CCDC39):c.162T>C (p.Ser54=) rs201308407 0.00053
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_181426.2(CCDC39):c.267T>C (p.Ile89=) rs61733581 0.00034
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00032
NM_181426.2(CCDC39):c.1035-5T>C rs200089274 0.00021
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn) rs374289303 0.00020
NM_181426.2(CCDC39):c.547T>C (p.Leu183=) rs375301243 0.00017
NM_181426.2(CCDC39):c.1528-4G>T rs1317352666 0.00014
NM_181426.2(CCDC39):c.1362+13T>C rs369141426 0.00013
NM_181426.2(CCDC39):c.396G>A (p.Leu132=) rs201923286 0.00013
NM_181426.2(CCDC39):c.1034+11A>G rs780737889 0.00011
NM_181426.2(CCDC39):c.255T>C (p.His85=) rs769151570 0.00011
NM_181426.2(CCDC39):c.357+8T>C rs374226135 0.00011
NM_181426.2(CCDC39):c.885G>A (p.Thr295=) rs775454434 0.00011
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_181426.2(CCDC39):c.609+15G>T rs186993887 0.00010
NM_181426.2(CCDC39):c.1728C>T (p.His576=) rs376737530 0.00009
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=) rs759900725 0.00009
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) rs749497447 0.00007
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=) rs371164022 0.00007
NM_181426.2(CCDC39):c.9C>T (p.Ser3=) rs540762763 0.00007
NM_181426.2(CCDC39):c.1149G>A (p.Glu383=) rs777802977 0.00005
NM_181426.2(CCDC39):c.474C>T (p.Leu158=) rs777326219 0.00005
NM_181426.2(CCDC39):c.42G>A (p.Gly14=) rs759103433 0.00004
NM_181426.2(CCDC39):c.1034+7A>T rs191242640 0.00003
NM_181426.2(CCDC39):c.1035-10C>A rs763268079 0.00002
NM_181426.2(CCDC39):c.1065A>C (p.Ile355=) rs200840073 0.00002
NM_181426.2(CCDC39):c.610-15C>T rs184123763 0.00002
NM_181426.2(CCDC39):c.993T>C (p.Asn331=) rs867488884 0.00002
NM_181426.2(CCDC39):c.1167+8T>C rs766629332 0.00001
NM_181426.2(CCDC39):c.1200T>C (p.Gly400=) rs940815178 0.00001
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=) rs373094293 0.00001
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=) rs370618523 0.00001
NM_181426.2(CCDC39):c.1620C>T (p.Ile540=) rs776608064 0.00001
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=) rs774871939 0.00001
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=) rs1030308648 0.00001
NM_181426.2(CCDC39):c.1998+14del rs779120394 0.00001
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) rs376782159 0.00001
NM_181426.2(CCDC39):c.211-13T>G rs991528026 0.00001
NM_181426.2(CCDC39):c.219C>T (p.Cys73=) rs766631443 0.00001
NM_181426.2(CCDC39):c.531A>G (p.Gln177=) rs779897284 0.00001
NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr) rs201125479 0.00001
NM_181426.2(CCDC39):c.863G>A (p.Arg288His) rs576805965 0.00001
NM_181426.2(CCDC39):c.867A>G (p.Lys289=) rs1164674720 0.00001
NM_181426.2(CCDC39):c.1020T>C (p.His340=)
NM_181426.2(CCDC39):c.1034+12A>G
NM_181426.2(CCDC39):c.1034+13C>G
NM_181426.2(CCDC39):c.1035-13A>G
NM_181426.2(CCDC39):c.1035-15A>G
NM_181426.2(CCDC39):c.1035-18G>A
NM_181426.2(CCDC39):c.1035-18G>T
NM_181426.2(CCDC39):c.1062G>A (p.Glu354=)
NM_181426.2(CCDC39):c.1077A>G (p.Lys359=)
NM_181426.2(CCDC39):c.1086G>A (p.Glu362=)
NM_181426.2(CCDC39):c.1129T>C (p.Leu377=)
NM_181426.2(CCDC39):c.1143A>G (p.Leu381=)
NM_181426.2(CCDC39):c.1167+10A>G
NM_181426.2(CCDC39):c.1167+1258_1167+1270del
NM_181426.2(CCDC39):c.1167+16A>G
NM_181426.2(CCDC39):c.1168-10T>C
NM_181426.2(CCDC39):c.1168-17A>G
NM_181426.2(CCDC39):c.1168-18T>C
NM_181426.2(CCDC39):c.1168-6_1168-4del
NM_181426.2(CCDC39):c.1179T>G (p.Val393=)
NM_181426.2(CCDC39):c.1183C>T (p.Leu395=)
NM_181426.2(CCDC39):c.1233T>A (p.Thr411=)
NM_181426.2(CCDC39):c.1236G>A (p.Glu412=)
NM_181426.2(CCDC39):c.1293A>G (p.Lys431=)
NM_181426.2(CCDC39):c.132G>A (p.Glu44=)
NM_181426.2(CCDC39):c.135A>G (p.Leu45=)
NM_181426.2(CCDC39):c.1362+16A>G
NM_181426.2(CCDC39):c.1362+19A>C
NM_181426.2(CCDC39):c.1362+20A>T rs1343116989
NM_181426.2(CCDC39):c.1363-12A>T
NM_181426.2(CCDC39):c.1363-13T>A
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-17_1363-16insC
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.1363-7_1363-6del rs764514126
NM_181426.2(CCDC39):c.1363-8T>G
NM_181426.2(CCDC39):c.1363-9C>A
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)
NM_181426.2(CCDC39):c.1410A>G (p.Gly470=)
NM_181426.2(CCDC39):c.141G>A (p.Glu47=)
NM_181426.2(CCDC39):c.1437G>A (p.Ala479=)
NM_181426.2(CCDC39):c.1437G>T (p.Ala479=) rs1429796397
NM_181426.2(CCDC39):c.144T>C (p.Tyr48=)
NM_181426.2(CCDC39):c.1470T>G (p.Ser490=)
NM_181426.2(CCDC39):c.1485A>G (p.Lys495=)
NM_181426.2(CCDC39):c.1491A>C (p.Thr497=)
NM_181426.2(CCDC39):c.1491A>G (p.Thr497=)
NM_181426.2(CCDC39):c.1506A>G (p.Glu502=)
NM_181426.2(CCDC39):c.1527+11C>T
NM_181426.2(CCDC39):c.1527+18C>T
NM_181426.2(CCDC39):c.1528-10T>C
NM_181426.2(CCDC39):c.1528-11_1528-10del rs765966793
NM_181426.2(CCDC39):c.1528-12T>A
NM_181426.2(CCDC39):c.1528-19C>A
NM_181426.2(CCDC39):c.1557T>C (p.His519=)
NM_181426.2(CCDC39):c.1575A>G (p.Glu525=)
NM_181426.2(CCDC39):c.1593C>A (p.Thr531=)
NM_181426.2(CCDC39):c.1602T>C (p.Asn534=)
NM_181426.2(CCDC39):c.1650C>T (p.Ala550=)
NM_181426.2(CCDC39):c.1665+20A>C
NM_181426.2(CCDC39):c.1665+7T>C
NM_181426.2(CCDC39):c.1665+9A>G
NM_181426.2(CCDC39):c.1666-10A>G
NM_181426.2(CCDC39):c.1666-11T>A
NM_181426.2(CCDC39):c.1666-8G>A
NM_181426.2(CCDC39):c.1666-8G>T
NM_181426.2(CCDC39):c.1666-9C>T
NM_181426.2(CCDC39):c.1689T>A (p.Leu563=)
NM_181426.2(CCDC39):c.1698T>C (p.Leu566=)
NM_181426.2(CCDC39):c.1701A>G (p.Glu567=)
NM_181426.2(CCDC39):c.1704T>G (p.Val568=)
NM_181426.2(CCDC39):c.1716A>G (p.Arg572=)
NM_181426.2(CCDC39):c.1731T>C (p.Ser577=)
NM_181426.2(CCDC39):c.1737A>G (p.Ala579=)
NM_181426.2(CCDC39):c.1767A>G (p.Lys589=)
NM_181426.2(CCDC39):c.1773A>G (p.Gln591=)
NM_181426.2(CCDC39):c.1795C>A (p.Arg599=) rs201780665
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)
NM_181426.2(CCDC39):c.1869C>T (p.Asn623=)
NM_181426.2(CCDC39):c.1875-10T>A
NM_181426.2(CCDC39):c.1875-14C>T
NM_181426.2(CCDC39):c.1875-14_1875-13del
NM_181426.2(CCDC39):c.1875-17T>A
NM_181426.2(CCDC39):c.1875-20del
NM_181426.2(CCDC39):c.1875-9T>C
NM_181426.2(CCDC39):c.1878T>G (p.Thr626=)
NM_181426.2(CCDC39):c.1890G>A (p.Glu630=)
NM_181426.2(CCDC39):c.18G>C (p.Leu6=)
NM_181426.2(CCDC39):c.1908G>A (p.Glu636=)
NM_181426.2(CCDC39):c.1920T>C (p.Asn640=)
NM_181426.2(CCDC39):c.1935G>A (p.Leu645=)
NM_181426.2(CCDC39):c.1953T>C (p.Pro651=)
NM_181426.2(CCDC39):c.1965A>G (p.Glu655=)
NM_181426.2(CCDC39):c.1968G>A (p.Glu656=)
NM_181426.2(CCDC39):c.1998+10A>G
NM_181426.2(CCDC39):c.1998+13_1998+16del
NM_181426.2(CCDC39):c.1998+20A>G
NM_181426.2(CCDC39):c.1999-12T>C
NM_181426.2(CCDC39):c.1999-8C>T
NM_181426.2(CCDC39):c.2019A>G (p.Glu673=)
NM_181426.2(CCDC39):c.2061A>G (p.Lys687=)
NM_181426.2(CCDC39):c.207A>G (p.Thr69=)
NM_181426.2(CCDC39):c.2082T>G (p.Ala694=)
NM_181426.2(CCDC39):c.210+12G>T
NM_181426.2(CCDC39):c.210+17T>C
NM_181426.2(CCDC39):c.210+20T>G
NM_181426.2(CCDC39):c.210+9A>C
NM_181426.2(CCDC39):c.2103G>T (p.Val701=)
NM_181426.2(CCDC39):c.211-13del
NM_181426.2(CCDC39):c.211-14G>T
NM_181426.2(CCDC39):c.211-16G>A
NM_181426.2(CCDC39):c.211-6C>A
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)
NM_181426.2(CCDC39):c.2127T>C (p.Tyr709=)
NM_181426.2(CCDC39):c.2136T>C (p.Ser712=)
NM_181426.2(CCDC39):c.2158+13T>C
NM_181426.2(CCDC39):c.2158+19T>G
NM_181426.2(CCDC39):c.2158+9G>A rs2108406532
NM_181426.2(CCDC39):c.2159-13T>C
NM_181426.2(CCDC39):c.2159-14G>A
NM_181426.2(CCDC39):c.2159-14G>T
NM_181426.2(CCDC39):c.2159-15T>G
NM_181426.2(CCDC39):c.2159-4T>G
NM_181426.2(CCDC39):c.2159-9A>G
NM_181426.2(CCDC39):c.2172G>A (p.Glu724=)
NM_181426.2(CCDC39):c.2184A>G (p.Gln728=)
NM_181426.2(CCDC39):c.2205T>C (p.Ala735=)
NM_181426.2(CCDC39):c.2265+11C>T
NM_181426.2(CCDC39):c.2265+15C>A
NM_181426.2(CCDC39):c.2265+16A>G
NM_181426.2(CCDC39):c.231G>A (p.Glu77=)
NM_181426.2(CCDC39):c.234T>G (p.Arg78=)
NM_181426.2(CCDC39):c.246T>C (p.Ser82=)
NM_181426.2(CCDC39):c.24G>A (p.Glu8=)
NM_181426.2(CCDC39):c.25C>T (p.Leu9=) rs886038750
NM_181426.2(CCDC39):c.264C>T (p.Ala88=)
NM_181426.2(CCDC39):c.270T>G (p.Ala90=)
NM_181426.2(CCDC39):c.285A>G (p.Gly95=)
NM_181426.2(CCDC39):c.294A>G (p.Lys98=)
NM_181426.2(CCDC39):c.297T>C (p.Asp99=)
NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
NM_181426.2(CCDC39):c.327T>C (p.Ala109=)
NM_181426.2(CCDC39):c.357+11A>G
NM_181426.2(CCDC39):c.357+14T>C
NM_181426.2(CCDC39):c.358-14T>C
NM_181426.2(CCDC39):c.358-18T>C
NM_181426.2(CCDC39):c.358-19C>G
NM_181426.2(CCDC39):c.360T>C (p.Asn120=)
NM_181426.2(CCDC39):c.36G>A (p.Glu12=)
NM_181426.2(CCDC39):c.420G>A (p.Gln140=)
NM_181426.2(CCDC39):c.426A>G (p.Ala142=)
NM_181426.2(CCDC39):c.432G>A (p.Glu144=)
NM_181426.2(CCDC39):c.435C>T (p.Ala145=)
NM_181426.2(CCDC39):c.450A>G (p.Ser150=)
NM_181426.2(CCDC39):c.462T>C (p.Asp154=)
NM_181426.2(CCDC39):c.516+11A>G
NM_181426.2(CCDC39):c.516+12_516+14del
NM_181426.2(CCDC39):c.516+14A>C rs377363801
NM_181426.2(CCDC39):c.516+16T>A
NM_181426.2(CCDC39):c.516+18G>A
NM_181426.2(CCDC39):c.516+18G>T
NM_181426.2(CCDC39):c.516+20A>T
NM_181426.2(CCDC39):c.516+9T>C rs2108429420
NM_181426.2(CCDC39):c.517-13A>G
NM_181426.2(CCDC39):c.517-14T>C
NM_181426.2(CCDC39):c.517-15A>G
NM_181426.2(CCDC39):c.517-17A>G
NM_181426.2(CCDC39):c.517-18T>C
NM_181426.2(CCDC39):c.517-7A>T
NM_181426.2(CCDC39):c.541C>T (p.Leu181=)
NM_181426.2(CCDC39):c.552A>G (p.Glu184=)
NM_181426.2(CCDC39):c.570G>A (p.Lys190=)
NM_181426.2(CCDC39):c.588T>G (p.Leu196=)
NM_181426.2(CCDC39):c.597T>C (p.Thr199=)
NM_181426.2(CCDC39):c.606A>T (p.Ala202=)
NM_181426.2(CCDC39):c.610-16G>T
NM_181426.2(CCDC39):c.610-20C>T
NM_181426.2(CCDC39):c.610-7T>C rs1576949405
NM_181426.2(CCDC39):c.610-8_610-5del
NM_181426.2(CCDC39):c.610-9G>A
NM_181426.2(CCDC39):c.610-9G>C
NM_181426.2(CCDC39):c.63C>T (p.Asn21=)
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) rs886058199
NM_181426.2(CCDC39):c.666A>G (p.Glu222=)
NM_181426.2(CCDC39):c.669C>A (p.Leu223=)
NM_181426.2(CCDC39):c.714T>C (p.Asp238=)
NM_181426.2(CCDC39):c.723A>T (p.Ile241=)
NM_181426.2(CCDC39):c.72C>T (p.Asn24=)
NM_181426.2(CCDC39):c.730T>C (p.Cys244Arg)
NM_181426.2(CCDC39):c.738+11T>C
NM_181426.2(CCDC39):c.738+7T>C
NM_181426.2(CCDC39):c.739-13G>A
NM_181426.2(CCDC39):c.739-17_739-16del
NM_181426.2(CCDC39):c.739-19A>G
NM_181426.2(CCDC39):c.765G>A (p.Thr255=)
NM_181426.2(CCDC39):c.765G>T (p.Thr255=)
NM_181426.2(CCDC39):c.781T>C (p.Leu261=)
NM_181426.2(CCDC39):c.79C>T (p.Leu27=)
NM_181426.2(CCDC39):c.801G>A (p.Lys267=)
NM_181426.2(CCDC39):c.813T>C (p.Ser271=)
NM_181426.2(CCDC39):c.816G>A (p.Glu272=)
NM_181426.2(CCDC39):c.81G>A (p.Leu27=)
NM_181426.2(CCDC39):c.822G>A (p.Gly274=)
NM_181426.2(CCDC39):c.852T>C (p.Ser284=)
NM_181426.2(CCDC39):c.861T>C (p.Asp287=)
NM_181426.2(CCDC39):c.873A>G (p.Leu291=)
NM_181426.2(CCDC39):c.888A>G (p.Ala296=)
NM_181426.2(CCDC39):c.90+12T>A
NM_181426.2(CCDC39):c.90+15A>G
NM_181426.2(CCDC39):c.90+16G>T
NM_181426.2(CCDC39):c.90+17C>G
NM_181426.2(CCDC39):c.90+7T>A
NM_181426.2(CCDC39):c.90+7T>G
NM_181426.2(CCDC39):c.91-17G>A
NM_181426.2(CCDC39):c.91-20A>G
NM_181426.2(CCDC39):c.91-4A>G
NM_181426.2(CCDC39):c.918G>A (p.Gln306=)
NM_181426.2(CCDC39):c.930+12C>A
NM_181426.2(CCDC39):c.930+14A>C
NM_181426.2(CCDC39):c.930+17_930+18del rs765920330
NM_181426.2(CCDC39):c.930+9A>G rs188183242
NM_181426.2(CCDC39):c.930+9A>T
NM_181426.2(CCDC39):c.931-10TAA[3]
NM_181426.2(CCDC39):c.931-16G>A
NM_181426.2(CCDC39):c.931-19T>C
NM_181426.2(CCDC39):c.931-20G>C
NM_181426.2(CCDC39):c.931-20G>T
NM_181426.2(CCDC39):c.931-9A>G
NM_181426.2(CCDC39):c.954G>A (p.Val318=)
NM_181426.2(CCDC39):c.984G>A (p.Leu328=)

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