ClinVar Miner

List of variants studied for Leber congenital amaurosis 4 by OMIM

Included ClinVar conditions (3):

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs)	rs62637016
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)	rs281865195
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)	rs62637012

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.