ClinVar Miner

List of variants in gene SPATA7 reported as benign for Leber congenital amaurosis

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=) rs112976233
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784
NM_018418.5(SPATA7):c.191-14C>A rs60770744
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677

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.