ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001278293.3(ARL6):c.-240C>T rs116162146
NM_015910.6(WDPCP):c.-396T>G rs2278718
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_152618.3(BBS12):c.*187dup rs386401352

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.