ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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_001195304.1(BBIP1):c.191C>G (p.Ala64Gly) rs760064445
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702
NM_025114.4(CEP290):c.7392_7393AG[1] (p.Glu2465fs) rs569673313
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823

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.