ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312

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.