ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NC_000015.10:g.72708224_72722485del
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678
NM_024649.5(BBS1):c.767del (p.Gln256fs)
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_152384.3(BBS5):c.619-1G>C
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys)
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs)
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858

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.