ClinVar Miner

List of variants in gene TMEM138 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_016464.5(TMEM138):c.128+5G>A rs917404097
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135

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.