List of variants in gene RPGRIP1 reported as likely pathogenic for Leber congenital amaurosis 1

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_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)	rs775935766	0.00002
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)	rs758239674	0.00001
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)	rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	rs1420750126
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)	rs751521888
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)	rs1555303320
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)

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.