ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Athena Diagnostics Inc

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373

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.