List of variants in gene PAX6 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)	rs758447642	0.00001
NM_001368894.2(PAX6):c.1173G>A (p.Met391Ile)	rs1258807367
NM_001368894.2(PAX6):c.1225+1G>T	rs1554982537
NM_001368894.2(PAX6):c.13C>T (p.His5Tyr)
NM_001368894.2(PAX6):c.18C>A (p.Ser6Arg)	rs929540579
NM_001368894.2(PAX6):c.313_316dup (p.Arg106fs)
NM_001368894.2(PAX6):c.356G>A (p.Arg119Lys)
NM_001368894.2(PAX6):c.416G>A (p.Arg139Lys)	rs2496001695
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)	rs201983312
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)	rs1554985028
NM_001368894.2(PAX6):c.512G>A (p.Gly171Asp)
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)	rs2495322124
NM_001368894.2(PAX6):c.647T>C (p.Met216Thr)	rs1950980284
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)	rs121907916
NM_001368894.2(PAX6):c.691T>C (p.Phe231Leu)	rs2495302923
NM_001368894.2(PAX6):c.920C>G (p.Thr307Ser)	rs1318034083

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.