ClinVar Miner

List of variants studied for Joubert syndrome 16 by OMIM

Included ClinVar conditions (1):

Joubert syndrome 16

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
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.