ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.8263dup (p.Thr2755fs) rs775263897
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158

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.