ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Sharon lab,Hadassah-Hebrew University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112

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.