ClinVar Miner

List of variants in gene UMPS reported as likely benign for Orotic aciduria

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_000373.4(UMPS):c.*4078T>C rs13315593 0.01135
NM_000373.4(UMPS):c.*2901G>C rs144492816 0.00977
NM_000373.4(UMPS):c.*2884A>G rs139426908 0.00976
NM_000373.4(UMPS):c.*3732C>T rs111966656 0.00908
NM_000373.4(UMPS):c.*1349G>A rs138112683 0.00768
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775 0.00389
NM_000373.4(UMPS):c.*4876C>G rs192036374 0.00361
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_000373.4(UMPS):c.*1155T>C rs112368493 0.00070
NM_000373.4(UMPS):c.*4016T>C rs77601301 0.00061
NM_000373.4(UMPS):c.*3065C>T rs116880739 0.00038
NM_000373.4(UMPS):c.*3264G>A rs190423326 0.00018
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473 0.00013
NM_000373.4(UMPS):c.*3494G>A rs575063959 0.00011
NM_000373.4(UMPS):c.*348C>T rs186337218 0.00009
NM_000373.4(UMPS):c.*3130C>T rs374728245 0.00003
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412GAA[1] rs369976877
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397

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.