ClinVar Miner

List of variants in gene B9D1 studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_015681.5(B9D1):c.109G>A (p.Gly37Ser) rs771997194
NM_015681.5(B9D1):c.151T>C (p.Ser51Pro)
NM_015681.5(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.5(B9D1):c.237C>G (p.Pro79=) rs149051059
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.5(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_015681.5(B9D1):c.434C>T (p.Thr145Ile) rs765607415
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000

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.