ClinVar Miner

List of variants in gene PNPO reported by Ambry Genetics

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Total variants: 30
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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 0.00051
NM_018129.4(PNPO):c.698G>A (p.Arg233Gln) rs144390543 0.00047
NM_018129.4(PNPO):c.542G>A (p.Arg181Gln) rs377328326 0.00027
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
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.500T>C (p.Ile167Thr) rs546737191 0.00006
NM_018129.4(PNPO):c.782C>T (p.Pro261Leu) rs769125577 0.00006
NM_018129.4(PNPO):c.488A>G (p.Lys163Arg) rs745757220 0.00004
NM_018129.4(PNPO):c.727T>C (p.Leu243=) rs773871270 0.00004
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.767A>G (p.Tyr256Cys) rs148784343 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.275C>T (p.Pro92Leu)
NM_018129.4(PNPO):c.323G>T (p.Arg108Leu) rs769985808
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) rs766311956
NM_018129.4(PNPO):c.431G>C (p.Gly144Ala) rs762554901
NM_018129.4(PNPO):c.459G>T (p.Glu153Asp)
NM_018129.4(PNPO):c.476A>C (p.His159Pro)
NM_018129.4(PNPO):c.527C>T (p.Ser176Phe)
NM_018129.4(PNPO):c.565G>C (p.Glu189Gln)
NM_018129.4(PNPO):c.626A>G (p.Tyr209Cys) rs1567714106

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