List of variants in gene PNPO reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)	rs546737191	0.00008
NM_018129.4(PNPO):c.413G>A (p.Arg138His)	rs764940495	0.00005
NM_018129.4(PNPO):c.482G>A (p.Arg161His)	rs770981773	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.399G>A (p.Trp133Ter)	rs766311956	0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	rs769266169	0.00002
NM_018129.4(PNPO):c.2T>C (p.Met1Thr)	rs796052870	0.00001
NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter)	rs148597698	0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)	rs104894629	0.00001
NM_018129.4(PNPO):c.138+1G>A	rs2509287507
NM_018129.4(PNPO):c.264-2A>G	rs780977054
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)	rs1483600034
NM_018129.4(PNPO):c.352G>A (p.Gly118Arg)	rs2509291965
NM_018129.4(PNPO):c.363+5G>A	rs766037058
NM_018129.4(PNPO):c.3G>T (p.Met1Ile)	rs1057524504
NM_018129.4(PNPO):c.418-1G>C	rs2144165139
NM_018129.4(PNPO):c.421C>T (p.Arg141Cys)	rs776630880
NM_018129.4(PNPO):c.434del (p.Pro145fs)
NM_018129.4(PNPO):c.448_451del (p.Pro150fs)	rs796052872
NM_018129.4(PNPO):c.481C>G (p.Arg161Gly)
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)	rs146027425
NM_018129.4(PNPO):c.547-1G>A	rs887046625
NM_018129.4(PNPO):c.547-2A>T	rs796052869
NM_018129.4(PNPO):c.563dup (p.Asn188fs)	rs768211557
NM_018129.4(PNPO):c.60del (p.Tyr21fs)
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp)	rs368943864

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