ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome by Genome Diagnostics Laboratory,VU University Medical Center Amsterdam

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.2632+9C>A rs148654647

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.