List of variants in gene BBS7 reported as pathogenic for Bardet-Biedl syndrome

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP
NM_176824.3(BBS7):c.1060_1061TA[1] (p.Tyr354_Lys355delinsTer)	rs773139166
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)	rs991365297
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs)	rs863224529
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	rs863224530
NM_176824.3(BBS7):c.529-1dup
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs)	rs1553933472
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	rs119466002
NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs)	rs760165634
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter)	rs1560658189
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs)	rs1578577361

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.