ClinVar Miner

List of variants reported as uncertain significance for Adenine phosphoribosyltransferase deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000485.3(APRT):c.*122C>T rs769271336
NM_000485.3(APRT):c.*152C>T rs137965502
NM_000485.3(APRT):c.*178A>C rs4695
NM_000485.3(APRT):c.*182A>G rs8191498
NM_000485.3(APRT):c.*83G>A rs748634790
NM_000485.3(APRT):c.162C>T (p.His54=) rs145490332
NM_000485.3(APRT):c.216C>A (p.Gly72=) rs377050219
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835

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.