ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1 by Mendelics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000012.11:g.88465636C>G
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala)
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)

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.