ClinVar Miner

List of variants in gene UMPS reported as likely benign for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_000373.4(UMPS):c.*1155T>C rs112368493
NM_000373.4(UMPS):c.*1349G>A rs138112683
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412_*2414GAA[1] rs369976877
NM_000373.4(UMPS):c.*2884A>G rs139426908
NM_000373.4(UMPS):c.*2901G>C rs144492816
NM_000373.4(UMPS):c.*3065C>T rs116880739
NM_000373.4(UMPS):c.*3130C>T rs374728245
NM_000373.4(UMPS):c.*3264G>A rs190423326
NM_000373.4(UMPS):c.*3732C>T rs111966656
NM_000373.4(UMPS):c.*4016T>C rs77601301
NM_000373.4(UMPS):c.*4078T>C rs13315593
NM_000373.4(UMPS):c.*4876C>G rs192036374
NM_000373.4(UMPS):c.*56del rs3836305
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776

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.