ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as likely benign for PAX6-related ocular dysgenesis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_001368894.2(PAX6):c.*20_*21del (p.Ter437=) rs759391101

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.