ClinVar Miner

List of variants in gene APRT studied for adenine phosphoribosyltransferase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
APRT, 254-BP DEL AND 8-BP INS
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.*83G>A rs748634790
NM_000485.3(APRT):c.162C>T (p.His54=) rs145490332
NM_000485.3(APRT):c.194A>T (p.Asp65Val) rs104894506
NM_000485.3(APRT):c.216C>A (p.Gly72=) rs377050219
NM_000485.3(APRT):c.258_261dup (p.Lys88fs) rs281860265
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507
NM_000485.3(APRT):c.297C>T (p.Ala99=) rs281860262
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835
NM_000485.3(APRT):c.321+2dup rs281860263
NM_000485.3(APRT):c.329T>C (p.Leu110Pro) rs104894508
NM_000485.3(APRT):c.400+2dup rs745594160
NM_000485.3(APRT):c.407T>C (p.Met136Thr) rs28999113
NM_000485.3(APRT):c.448G>T (p.Val150Phe) rs281860266
NM_000485.3(APRT):c.518_520TCT[1] (p.Phe174del) rs121912681
NM_000485.3(APRT):c.542G>C (p.Ter181Ser) rs387906584

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.