ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Department Of Medical Genetics, Faculty Of Medicine, Ege University

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209
NM_031885.5(BBS2):c.263del (p.Gly88fs) rs869025206
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_198428.3(BBS9):c.104_112+4del rs869025208

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.