List of variants in gene PAX6 reported as uncertain significance for autosomal dominant keratitis

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)	rs373147550	0.00024
NM_001368894.2(PAX6):c.-59G>T	rs886048204	0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)	rs769095184	0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)	rs1159095794	0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)	rs75572362	0.00001
NM_001368894.2(PAX6):c.-147_-146dup	rs886048205
NM_001368894.2(PAX6):c.-167G>T	rs1956928845
NM_001368894.2(PAX6):c.184-8C>T	rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)	rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)	rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)	rs1953501315
NM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)	rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)	rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)	rs1954524676
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)	rs1592415376

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.