ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 3 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969 0.39047
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448 0.30943
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.04245
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03845
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665 0.03818
NM_018418.5(SPATA7):c.191-14C>A rs60770744 0.03598
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=) rs112976233 0.01543
NM_018418.5(SPATA7):c.-95C>T rs114796215 0.00515

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.