ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_015910.7(WDPCP):c.1915+13G>A rs992214
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.76+19G>T rs4777527
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_176824.3(BBS7):c.1890+16G>A rs1507994
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504

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.