ClinVar Miner

List of variants in gene combination GIGYF2, KCNJ13 reported as likely benign for Leber congenital amaurosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_002242.4(KCNJ13):c.*135A>G rs8192539
NM_002242.4(KCNJ13):c.*1839A>G rs34063802
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) rs1801251

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.