ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Mendelics

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_031885.4(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240

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.