ClinVar Miner

List of variants studied for Joubert syndrome 1 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362

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.