List of variants reported as likely benign for Leber congenital amaurosis 6 by Illumina Laboratory Services, Illumina

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.3340-15C>T	rs28664100	0.05325
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)	rs17103671	0.02649
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu)	rs34725281	0.02464
NM_020366.4(RPGRIP1):c.*10T>C	rs80191010	0.01626
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=)	rs34116882	0.01609
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)	rs34067949	0.00344
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)	rs147586703	0.00155
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)	rs144585562	0.00130

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.