ClinVar Miner

List of variants reported as benign for Erythrocyte AMP deaminase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001025389.1(AMPD3):c.-239G>C rs899012 0.99541
NM_001025389.2(AMPD3):c.*1585G>A rs1545743 0.99471
NM_001025389.2(AMPD3):c.*1090A>G rs1037998 0.99467
NM_001025389.2(AMPD3):c.*694A>G rs2169594 0.97808
NM_001025389.2(AMPD3):c.*1052A>G rs9292 0.94087
NM_001025389.2(AMPD3):c.-103T>C rs899011 0.72968
NM_001025389.1(AMPD3):c.-312A>G rs899013 0.60011
NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=) rs3741041 0.32346
NM_001025389.2(AMPD3):c.*1070A>G rs7416 0.15810
NM_001025389.2(AMPD3):c.-88G>T rs28403593 0.15242
NM_001025389.2(AMPD3):c.573G>A (p.Pro191=) rs16907852 0.14463
NM_001025389.2(AMPD3):c.-82T>G rs58115104 0.13519
NM_001025389.1(AMPD3):c.-303C>T rs2071019 0.06605
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243

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.