ClinVar Miner

List of variants in gene BBS2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.345+5G>A rs1430976492
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.5(BBS2):c.1080+2T>C
NM_031885.5(BBS2):c.1397+1G>A
NM_031885.5(BBS2):c.1398-2A>G
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.612+1G>T
NM_031885.5(BBS2):c.718-2A>C
NM_031885.5(BBS2):c.804+1_804+14del
NM_031885.5(BBS2):c.941-1G>C

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.