List of variants reported as likely pathogenic for Cone-rod dystrophy 13; Leber congenital amaurosis 6 by Invitae

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.218+1G>T	rs546692544	0.00004
NM_020366.4(RPGRIP1):c.1467+1G>A	rs1167313603	0.00001
NM_020366.4(RPGRIP1):c.86-1G>A	rs200968268	0.00001
NM_020366.4(RPGRIP1):c.931-2A>G	rs374188857	0.00001
NC_000014.8:g.(?_21769105)_(21794352_?)dup
NC_000014.8:g.(?_21798388)_(21798566_?)dup
NC_000014.8:g.(?_21819243)_(21819375_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NM_020366.4(RPGRIP1):c.1763-2A>G
NM_020366.4(RPGRIP1):c.219-2A>G	rs1880999471
NM_020366.4(RPGRIP1):c.2216-1G>A	rs970696880
NM_020366.4(RPGRIP1):c.2367+1G>A	rs1882968821
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020366.4(RPGRIP1):c.3533-2A>G

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.