ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685

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.