ClinVar Miner

List of variants in gene CPLANE1 reported as likely pathogenic for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter)

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.