ClinVar Miner

List of variants reported as uncertain significance for Phosphoribosylpyrophosphate synthetase superactivity by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dup rs1057515728

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.