List of variants in gene PNPO reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_018129.4(PNPO):c.363+249G>A	rs2325750	0.62778
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.552G>A (p.Leu184=)	rs4378657	0.06317
NM_018129.4(PNPO):c.618-26A>G	rs79515268	0.06311
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.138+143C>T	rs147883701	0.02542
NM_018129.4(PNPO):c.486C>G (p.Pro162=)	rs35974730	0.02044
NM_018129.4(PNPO):c.546+15G>A	rs71377328	0.02044
NM_018129.4(PNPO):c.546+155G>T	rs71377329	0.01915
NM_018129.4(PNPO):c.*293G>C	rs111534752	0.01097
NM_018129.4(PNPO):c.264-129C>T	rs79390440	0.00927
NM_018129.4(PNPO):c.364-139T>C	rs146394681	0.00624
NM_018129.4(PNPO):c.167T>G (p.Leu56Arg)	rs145461623	0.00051
NM_018129.4(PNPO):c.723C>G (p.Ser241=)	rs144362146	0.00048
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.-28A>G	rs745440177	0.00024
NM_018129.4(PNPO):c.12G>T (p.Trp4Cys)	rs773614378	0.00016
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys)	rs746311862	0.00013
NM_018129.4(PNPO):c.628G>T (p.Val210Phe)	rs146339491	0.00013
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)	rs370243877	0.00013
NM_018129.4(PNPO):c.147G>A (p.Glu49=)	rs151112202	0.00009
NM_018129.4(PNPO):c.433C>T (p.Pro145Ser)	rs551097300	0.00007
NM_018129.4(PNPO):c.540T>C (p.Asp180=)	rs200428415	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.413G>A (p.Arg138His)	rs764940495	0.00005
NM_018129.4(PNPO):c.546+14C>T	rs749039836	0.00005
NM_018129.4(PNPO):c.-24G>A	rs944038833	0.00004
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.657G>A (p.Trp219Ter)	rs776248931	0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	rs773450573	0.00003
NM_018129.4(PNPO):c.697C>T (p.Arg233Trp)	rs139643093	0.00003
NM_018129.4(PNPO):c.363+6T>C	rs753555879	0.00002
NM_018129.4(PNPO):c.547-17C>G	rs750566159	0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	rs769266169	0.00002
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)	rs549477447	0.00001
NM_018129.4(PNPO):c.155A>C (p.His52Pro)	rs141119385	0.00001
NM_018129.4(PNPO):c.20G>A (p.Gly7Asp)	rs1426940419	0.00001
NM_018129.4(PNPO):c.2T>C (p.Met1Thr)	rs796052870	0.00001
NM_018129.4(PNPO):c.307G>A (p.Gly103Arg)	rs781657980	0.00001
NM_018129.4(PNPO):c.340G>A (p.Glu114Lys)	rs796052868	0.00001
NM_018129.4(PNPO):c.393C>T (p.Phe131=)	rs1389481167	0.00001
NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter)	rs148597698	0.00001
NM_018129.4(PNPO):c.493A>G (p.Ser165Gly)	rs775306202	0.00001
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)	rs138727329	0.00001
NM_018129.4(PNPO):c.598G>A (p.Val200Met)	rs1192912615	0.00001
NM_018129.4(PNPO):c.618-4A>G	rs758202034	0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)	rs104894629	0.00001
NM_018129.4(PNPO):c.712A>G (p.Thr238Ala)	rs2036015392	0.00001
NM_018129.4(PNPO):c.747C>T (p.Arg249=)	rs1567714229	0.00001
NM_018129.4(PNPO):c.83G>A (p.Arg28His)	rs866973135	0.00001
NM_018129.4(PNPO):c.89C>T (p.Ala30Val)	rs796052871	0.00001
NM_018129.4(PNPO):c.-17G>A	rs769282563
NM_018129.4(PNPO):c.-1dup (p.Met1fs)	rs796052867
NM_018129.4(PNPO):c.-38G>C	rs1057522212
NM_018129.4(PNPO):c.-6C>A	rs762339867
NM_018129.4(PNPO):c.104G>A (p.Gly35Glu)	rs1299097842
NM_018129.4(PNPO):c.132C>T (p.Asp44=)	rs1355321284
NM_018129.4(PNPO):c.138+13G>A	rs757114373
NM_018129.4(PNPO):c.251C>G (p.Ala84Gly)	rs762138576
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter)	rs766311956
NM_018129.4(PNPO):c.3G>T (p.Met1Ile)	rs1057524504
NM_018129.4(PNPO):c.431G>C (p.Gly144Ala)	rs762554901
NM_018129.4(PNPO):c.448_451del (p.Pro150fs)	rs796052872
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)	rs146027425
NM_018129.4(PNPO):c.539_541dup (p.Asp180_Arg181insHis)	rs1131691848
NM_018129.4(PNPO):c.586C>G (p.Gln196Glu)	rs1445550737
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018129.4(PNPO):c.674G>T (p.Arg225Leu)	rs550423482
NM_018129.4(PNPO):c.684C>T (p.Asp228=)	rs1555563380
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp)	rs368943864
NM_018129.4(PNPO):c.734C>T (p.Pro245Leu)	rs2036016316
NM_018129.4(PNPO):c.73C>T (p.Leu25=)	rs755060399

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