ClinVar Miner

List of variants in gene CEP104 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (97):
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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) rs142899837 0.00050
NM_014704.4(CEP104):c.1453G>A (p.Val485Ile) rs11800891 0.00047
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269 0.00044
NM_014704.4(CEP104):c.2423G>A (p.Gly808Glu) rs148877817 0.00040
NM_014704.4(CEP104):c.2621G>A (p.Arg874His) rs139076247 0.00036
NM_014704.4(CEP104):c.278G>A (p.Arg93Gln) rs199576006 0.00034
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn) rs537512159 0.00025
NM_014704.4(CEP104):c.781G>A (p.Val261Met) rs768279838 0.00023
NM_014704.4(CEP104):c.932G>A (p.Arg311His) rs140022279 0.00023
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) rs144805659 0.00019
NM_014704.4(CEP104):c.612G>A (p.Met204Ile) rs141906706 0.00019
NM_014704.4(CEP104):c.2571+6G>A rs373332298 0.00015
NM_014704.4(CEP104):c.487A>C (p.Thr163Pro) rs200208264 0.00015
NM_014704.4(CEP104):c.1120-5T>A rs200748628 0.00011
NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg) rs201733773 0.00011
NM_014704.4(CEP104):c.1297G>A (p.Asp433Asn) rs149976444 0.00009
NM_014704.4(CEP104):c.272G>A (p.Arg91Gln) rs200411994 0.00009
NM_014704.4(CEP104):c.772C>T (p.Arg258Cys) rs367923941 0.00009
NM_014704.4(CEP104):c.83C>T (p.Ala28Val) rs150169294 0.00008
NM_014704.4(CEP104):c.1264G>A (p.Glu422Lys) rs143877457 0.00007
NM_014704.4(CEP104):c.1485C>T (p.Ser495=) rs371540690 0.00007
NM_014704.4(CEP104):c.906T>G (p.Phe302Leu) rs529153686 0.00007
NM_014704.4(CEP104):c.1317+3A>T rs35165199 0.00005
NM_014704.4(CEP104):c.1570C>T (p.His524Tyr) rs778672499 0.00005
NM_014704.4(CEP104):c.1583G>C (p.Arg528Thr) rs753327824 0.00005
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala) rs760840197 0.00005
NM_014704.4(CEP104):c.65G>A (p.Arg22Gln) rs372416064 0.00005
NM_014704.4(CEP104):c.838C>T (p.Arg280Cys) rs139901107 0.00005
NM_014704.4(CEP104):c.961A>G (p.Met321Val) rs144278349 0.00005
NM_014704.4(CEP104):c.2662+10A>T rs552644535 0.00004
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn) rs779086283 0.00004
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys) rs200997681 0.00004
NM_014704.4(CEP104):c.535G>A (p.Glu179Lys) rs765557028 0.00004
NM_014704.4(CEP104):c.1631T>A (p.Leu544His) rs772547053 0.00003
NM_014704.4(CEP104):c.560A>G (p.Tyr187Cys) rs749228961 0.00003
NM_014704.4(CEP104):c.817A>C (p.Lys273Gln) rs551916206 0.00003
NM_014704.4(CEP104):c.886G>A (p.Glu296Lys) rs752473793 0.00003
NM_014704.4(CEP104):c.1444G>A (p.Val482Ile) rs772261276 0.00002
NM_014704.4(CEP104):c.719T>C (p.Ile240Thr) rs752655065 0.00002
NM_014704.4(CEP104):c.1033C>G (p.Pro345Ala) rs745563257 0.00001
NM_014704.4(CEP104):c.1136A>G (p.Tyr379Cys) rs746725267 0.00001
NM_014704.4(CEP104):c.1199T>A (p.Met400Lys) rs1644319704 0.00001
NM_014704.4(CEP104):c.1331A>G (p.Tyr444Cys) rs777132479 0.00001
NM_014704.4(CEP104):c.1496C>T (p.Ala499Val) rs911223914 0.00001
NM_014704.4(CEP104):c.14T>C (p.Ile5Thr) rs778380560 0.00001
NM_014704.4(CEP104):c.2137C>G (p.Gln713Glu) rs1311531310 0.00001
NM_014704.4(CEP104):c.2183A>G (p.Asn728Ser) rs773575374 0.00001
NM_014704.4(CEP104):c.22G>T (p.Val8Leu) rs1195974342 0.00001
NM_014704.4(CEP104):c.2441G>A (p.Arg814His) rs367663524 0.00001
NM_014704.4(CEP104):c.2503+1G>A rs756171105 0.00001
NM_014704.4(CEP104):c.290A>G (p.Tyr97Cys) rs372683565 0.00001
NM_014704.4(CEP104):c.313A>G (p.Lys105Glu) rs55720731 0.00001
NM_014704.4(CEP104):c.453T>G (p.Ile151Met) rs757425751 0.00001
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser) rs867268929 0.00001
NM_014704.4(CEP104):c.686G>A (p.Arg229His) rs1027030686 0.00001
NM_014704.4(CEP104):c.931C>T (p.Arg311Cys) rs1237002210 0.00001
NC_000001.10:g.(?_3731966)_(3768971_?)dup
NM_014704.4(CEP104):c.1082C>G (p.Pro361Arg) rs369557437
NM_014704.4(CEP104):c.1213A>G (p.Ile405Val) rs1397558523
NM_014704.4(CEP104):c.1216A>G (p.Ser406Gly) rs2525448907
NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn) rs1570811185
NM_014704.4(CEP104):c.1237A>C (p.Met413Leu)
NM_014704.4(CEP104):c.1550T>C (p.Leu517Pro) rs1644264163
NM_014704.4(CEP104):c.1588A>G (p.Ile530Val) rs561088543
NM_014704.4(CEP104):c.1651T>G (p.Phe551Val) rs2525429444
NM_014704.4(CEP104):c.166A>T (p.Ile56Leu) rs2124693591
NM_014704.4(CEP104):c.2111G>T (p.Gly704Val)
NM_014704.4(CEP104):c.2151+3T>C rs771237087
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser) rs533659013
NM_014704.4(CEP104):c.2447G>T (p.Ser816Ile) rs759250010
NM_014704.4(CEP104):c.254C>T (p.Ala85Val) rs2525523628
NM_014704.4(CEP104):c.2684C>A (p.Ala895Glu) rs754145994
NM_014704.4(CEP104):c.2684C>T (p.Ala895Val) rs754145994
NM_014704.4(CEP104):c.286G>C (p.Gly96Arg) rs2124693275
NM_014704.4(CEP104):c.332G>A (p.Arg111Gln)
NM_014704.4(CEP104):c.346G>A (p.Val116Ile)
NM_014704.4(CEP104):c.497G>A (p.Arg166Gln) rs149119607
NM_014704.4(CEP104):c.520C>T (p.Leu174Phe) rs1243590943
NM_014704.4(CEP104):c.590T>C (p.Leu197Pro) rs1644380333
NM_014704.4(CEP104):c.595G>A (p.Asp199Asn) rs1557681983
NM_014704.4(CEP104):c.665G>A (p.Arg222Gln)
NM_014704.4(CEP104):c.791A>G (p.Glu264Gly)
NM_014704.4(CEP104):c.805G>A (p.Ala269Thr) rs374002795
NM_014704.4(CEP104):c.906T>A (p.Phe302Leu) rs529153686
NM_014704.4(CEP104):c.928G>A (p.Ala310Thr) rs370867227

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