List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)	rs751375244	0.00006
NM_024649.5(BBS1):c.830+2T>C	rs1856209722	0.00001
NM_031885.5(BBS2):c.365del (p.Ala122fs)	rs1964569500
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)	rs886039797
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)	rs1595959305
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)	rs786205636

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.