ClinVar Miner

List of variants in gene PNPO studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_018129.4(PNPO):c.167T>G (p.Leu56Arg) rs145461623 0.00047
NM_018129.4(PNPO):c.698G>A (p.Arg233Gln) rs144390543 0.00042
NM_018129.4(PNPO):c.542G>A (p.Arg181Gln) rs377328326 0.00027
NM_018129.4(PNPO):c.12G>T (p.Trp4Cys) rs773614378 0.00015
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00012
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr) rs546737191 0.00008
NM_018129.4(PNPO):c.701G>A (p.Arg234Gln) rs1446089309 0.00007
NM_018129.4(PNPO):c.777T>C (p.Leu259=) rs142461702 0.00007
NM_018129.4(PNPO):c.37G>T (p.Gly13Trp) rs1025645549 0.00005
NM_018129.4(PNPO):c.306C>T (p.Phe102=) rs796052866 0.00003
NM_018129.4(PNPO):c.438G>A (p.Val146=) rs766799976 0.00003
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) rs776248931 0.00003
NM_018129.4(PNPO):c.697C>T (p.Arg233Trp) rs139643093 0.00003
NM_018129.4(PNPO):c.727T>C (p.Leu243=) rs773871270 0.00003
NM_018129.4(PNPO):c.767A>G (p.Tyr256Cys) rs148784343 0.00003
NM_018129.4(PNPO):c.782C>T (p.Pro261Leu) rs769125577 0.00003
NM_018129.4(PNPO):c.139-4C>G rs766668907 0.00002
NM_018129.4(PNPO):c.16C>A (p.Arg6=) rs765997859 0.00002
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) rs766311956 0.00002
NM_018129.4(PNPO):c.433C>T (p.Pro145Ser) rs551097300 0.00001
NM_018129.4(PNPO):c.488A>G (p.Lys163Arg) rs745757220 0.00001
NM_018129.4(PNPO):c.91G>C (p.Ala31Pro) rs765314515 0.00001
NM_018129.4(PNPO):c.206C>T (p.Ala69Val)
NM_018129.4(PNPO):c.275C>T (p.Pro92Leu) rs753372216
NM_018129.4(PNPO):c.323G>T (p.Arg108Leu) rs769985808
NM_018129.4(PNPO):c.401A>G (p.Glu134Gly)
NM_018129.4(PNPO):c.431G>C (p.Gly144Ala) rs762554901
NM_018129.4(PNPO):c.459G>T (p.Glu153Asp) rs142149821
NM_018129.4(PNPO):c.476A>C (p.His159Pro) rs1598199677
NM_018129.4(PNPO):c.527C>T (p.Ser176Phe) rs142969923
NM_018129.4(PNPO):c.565G>C (p.Glu189Gln) rs1039654112
NM_018129.4(PNPO):c.626A>G (p.Tyr209Cys) rs1567714106

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.