ClinVar Miner

List of variants reported as pathogenic for aniridia by Genetics Department, University Hospital of Toulouse

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-129+1G>A rs1565277245
NM_001368894.2(PAX6):c.-52+3_-52+4del rs1565264399
NM_001368894.2(PAX6):c.-52+3_-52+6delinsTG rs1565264372
NM_001368894.2(PAX6):c.-52+5del rs1565264387
NM_001368894.2(PAX6):c.1017del (p.Tyr340fs)
NM_001368894.2(PAX6):c.38_41delinsAATCAGC (p.Gly13_Val14delinsGluSerAla)
NM_001368894.2(PAX6):c.410T>A (p.Ile137Lys)
NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter) rs2124283411

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.