ClinVar Miner

List of variants in gene CEP41 reported as likely benign 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: 45
Download table as spreadsheet
HGVS dbSNP
NM_018718.3(CEP41):c.*1336A>G
NM_018718.3(CEP41):c.*136T>G
NM_018718.3(CEP41):c.*1512C>T
NM_018718.3(CEP41):c.*1534T>C
NM_018718.3(CEP41):c.*1567A>C
NM_018718.3(CEP41):c.*2481T>A
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*392G>A
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4594C>T
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.146-13C>T
NM_018718.3(CEP41):c.146-9A>G
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.208-7C>G
NM_018718.3(CEP41):c.208-7C>T
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464
NM_018718.3(CEP41):c.277+10del
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
NM_018718.3(CEP41):c.422+7G>A rs190680511
NM_018718.3(CEP41):c.423-18C>A rs371925259
NM_018718.3(CEP41):c.423-8A>G
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
NM_018718.3(CEP41):c.973+15C>T
NM_018718.3(CEP41):c.973+8del
NM_018718.3(CEP41):c.974-8C>T rs367692258

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.