ClinVar Miner

List of variants reported as likely pathogenic for ABCA4-Related Disorders

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958

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.