ClinVar Miner

List of variants in gene combination ARFGEF1, CSPP1 reported as likely benign for Joubert syndrome 21

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_024790.6(CSPP1):c.3389T>G (p.Leu1130Arg) rs546683385
NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) rs376215036
NM_024790.6(CSPP1):c.3563C>T (p.Thr1188Met) rs201142840

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.