ClinVar Miner

List of variants in gene CEP41 reported as uncertain significance for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_130038777_130039476del
NM_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1191G>A
NM_018718.3(CEP41):c.*1205G>T
NM_018718.3(CEP41):c.*1284A>G
NM_018718.3(CEP41):c.*1328T>A
NM_018718.3(CEP41):c.*1341A>C
NM_018718.3(CEP41):c.*1352G>A
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1538A>C
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*1644A>G
NM_018718.3(CEP41):c.*1646G>A
NM_018718.3(CEP41):c.*1766T>C
NM_018718.3(CEP41):c.*1768G>T
NM_018718.3(CEP41):c.*1773A>G
NM_018718.3(CEP41):c.*1974A>G
NM_018718.3(CEP41):c.*1981G>A
NM_018718.3(CEP41):c.*2111A>G
NM_018718.3(CEP41):c.*2116T>C
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C
NM_018718.3(CEP41):c.*2226G>A
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*2669A>G
NM_018718.3(CEP41):c.*2709G>A
NM_018718.3(CEP41):c.*2725C>T
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2781A>G
NM_018718.3(CEP41):c.*2786A>C
NM_018718.3(CEP41):c.*2849A>G
NM_018718.3(CEP41):c.*287C>T
NM_018718.3(CEP41):c.*3040G>A
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3097T>C
NM_018718.3(CEP41):c.*3193C>T rs886061989
NM_018718.3(CEP41):c.*3274G>A rs112007936
NM_018718.3(CEP41):c.*333C>T rs886062000
NM_018718.3(CEP41):c.*3451G>A rs144534675
NM_018718.3(CEP41):c.*3541G>A
NM_018718.3(CEP41):c.*3708A>T
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
NM_018718.3(CEP41):c.*409A>C rs782042681
NM_018718.3(CEP41):c.*4216C>T rs187549864
NM_018718.3(CEP41):c.*4244C>G rs544508687
NM_018718.3(CEP41):c.*4322G>A
NM_018718.3(CEP41):c.*4343C>G
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4385C>T
NM_018718.3(CEP41):c.*4391G>A rs782450438
NM_018718.3(CEP41):c.*4417G>A rs886061988
NM_018718.3(CEP41):c.*4464T>C rs886061987
NM_018718.3(CEP41):c.*4505G>T
NM_018718.3(CEP41):c.*4539C>T
NM_018718.3(CEP41):c.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4714T>C
NM_018718.3(CEP41):c.*4769C>T
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.*4908G>A rs552988501
NM_018718.3(CEP41):c.*4973C>T rs760160179
NM_018718.3(CEP41):c.*4994T>C rs527933839
NM_018718.3(CEP41):c.*5068G>A rs148856430
NM_018718.3(CEP41):c.*55G>A
NM_018718.3(CEP41):c.*578T>C
NM_018718.3(CEP41):c.*593G>A rs186685101
NM_018718.3(CEP41):c.*614A>G
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*682A>G
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*740C>T
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*776G>A
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*832A>C
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.*881G>A
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
NM_018718.3(CEP41):c.145+3A>G
NM_018718.3(CEP41):c.145+5G>A
NM_018718.3(CEP41):c.145+6del
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
NM_018718.3(CEP41):c.643-6T>A
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429
NM_018718.3(CEP41):c.757+11T>C
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.973+404_1077del
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.