List of variants in gene combination ELP4, PAX6 reported as benign for Aniridia, Cerebellar Ataxia, And Intellectual Disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A	rs608293	0.88020
NM_000280.4(PAX6):c.2893_2896dupATTT	rs397795797	0.87467
NM_000280.4(PAX6):c.*1184A>T	rs1506	0.71948
NM_000280.4(PAX6):c.*3958G>A	rs3026401	0.70691
NM_000280.4(PAX6):c.*2707C>T	rs3026398	0.22983
NM_000280.4(PAX6):c.*4296G>C	rs16922475	0.05615
NM_000280.4(PAX6):c.*2305G>A	rs73477656	0.02650
NM_000280.4(PAX6):c.3736_3737delCA	rs141022497	0.02589
NM_000280.4(PAX6):c.3246_3247insTTTT	rs34919147

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.