List of variants in gene BBS4 reported as benign for Bardet-Biedl syndrome 4

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.906T>C (p.Phe302=)	rs12914333	0.95849
NM_033028.5(BBS4):c.1036+114G>A	rs9806635	0.95845
NM_033028.5(BBS4):c.1248+68G>A	rs12324395	0.95651
NM_033028.5(BBS4):c.77-6G>A	rs8033604	0.94438
NM_033028.5(BBS4):c.76+19G>T	rs4777527	0.94399
NM_033028.5(BBS4):c.643-102T>C	rs6495015	0.54330
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)	rs2277598	0.52665
NM_033028.5(BBS4):c.-17C>T	rs56368716	0.06844
NM_033028.4(BBS4):c.-38C>A	rs11637927	0.04836
NM_033028.5(BBS4):c.*1G>C	rs113678046	0.01165
NM_033028.5(BBS4):c.180A>G (p.Gln60=)	rs114434361	0.00852
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	rs75295839	0.00687
NM_033028.5(BBS4):c.1106+20T>C	rs145968663	0.00461
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)	rs142692981	0.00118
NM_033028.5(BBS4):c.24+8C>T	rs200055760	0.00040
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)	rs2277596	0.00034
NM_033028.5(BBS4):c.*608G>T	rs12898814

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.