ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as benign for Bardet-Biedl syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_024649.5(BBS1):c.*1215T>C rs115354748
NM_024649.5(BBS1):c.*187C>T
NM_024649.5(BBS1):c.*428G>C rs41302425
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.*840A>G rs3741360
NM_024649.5(BBS1):c.*955G>A rs1791686
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.1695+10G>A rs200276861
NM_024649.5(BBS1):c.724-8G>C rs10896125

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.