ClinVar Miner

List of variants in gene PNPO reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018129.4(PNPO):c.363+249G>A rs2325750 0.63678
NM_018129.4(PNPO):c.364-36C>T rs2002136 0.35597
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_018129.4(PNPO):c.618-26A>G rs79515268 0.06358
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_018129.4(PNPO):c.418-67G>A rs73985445 0.05296
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_018129.4(PNPO):c.418-64G>A rs9894340 0.03748
NM_018129.4(PNPO):c.139-310G>A rs77084317 0.02728
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_018129.4(PNPO):c.546+15G>A rs71377328 0.01925
NM_018129.4(PNPO):c.546+155G>T rs71377329 0.01915
NM_018129.4(PNPO):c.723C>G (p.Ser241=) rs144362146 0.00048
NM_018129.4(PNPO):c.777T>C (p.Leu259=) rs142461702 0.00007
NM_018129.4(PNPO):c.306C>T (p.Phe102=) rs796052866 0.00003
NM_018129.4(PNPO):c.747C>T (p.Arg249=) rs1567714229 0.00001

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.