List of variants studied for IMPG1-related recessive retinopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001563.4(IMPG1):c.1552C>G (p.His518Asp)	rs3734311	0.46014
NM_001563.4(IMPG1):c.2132G>A (p.Arg711His)	rs3734313	0.16006
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)	rs367576664	0.00005
NM_001563.4(IMPG1):c.1982G>A (p.Arg661His)	rs200128845	0.00003
NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln)	rs200194885	0.00002
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro)	rs713993047	0.00001
NM_001563.4(IMPG1):c.1530del (p.Gly511fs)
NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr)	rs1782008139
NM_001563.4(IMPG1):c.1824+1G>A	rs770887047
NM_001563.4(IMPG1):c.2362G>T (p.Glu788Ter)
NM_001563.4(IMPG1):c.710_727del (p.Glu237_Leu242del)
NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg)	rs713993045
NM_001563.4(IMPG1):c.807+1G>T	rs713993046
NM_001563.4(IMPG1):c.807+5G>A	rs2149482319
NM_001563.4(IMPG1):c.960T>A (p.Ser320Arg)	rs1783079545

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.