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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)	rs113994178
NM_024649.5(BBS1):c.1340-2A>G	rs113994180
NM_024649.5(BBS1):c.831-3C>G	rs113994179
NM_033028.5(BBS4):c.157-2A>G	rs113994192
NM_033028.5(BBS4):c.220+1G>C	rs113994190
NM_033028.5(BBS4):c.406-2A>C	rs113994191
NM_033028.5(BBS4):c.77-216del	rs113994189
NM_170784.3(MKKS):c.431_441del (p.Phe144fs)	rs113994195
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)	rs113994196

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.