List of variants in gene PNPO reported as likely benign for nutritional disorder

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: 134

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HGVS	dbSNP	gnomAD frequency
NM_018129.4(PNPO):c.*1151C>T	rs145323612	0.00560
NM_018129.4(PNPO):c.*958G>T	rs189494213	0.00336
NM_018129.4(PNPO):c.*756T>C	rs566414102	0.00228
NM_018129.4(PNPO):c.*272T>G	rs189065288	0.00150
NM_018129.4(PNPO):c.723C>G (p.Ser241=)	rs144362146	0.00048
NM_018129.4(PNPO):c.547-10C>T	rs572871752	0.00013
NM_018129.4(PNPO):c.147G>A (p.Glu49=)	rs151112202	0.00009
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.546+14C>T	rs749039836	0.00005
NM_018129.4(PNPO):c.727T>C (p.Leu243=)	rs773871270	0.00004
NM_018129.4(PNPO):c.139-10C>T	rs1040105432	0.00003
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.139-4C>G	rs766668907	0.00002
NM_018129.4(PNPO):c.16C>A (p.Arg6=)	rs765997859	0.00002
NM_018129.4(PNPO):c.333T>C (p.Thr111=)	rs775797008	0.00002
NM_018129.4(PNPO):c.510G>A (p.Val170=)	rs766998961	0.00002
NM_018129.4(PNPO):c.138+9G>A	rs746859243	0.00001
NM_018129.4(PNPO):c.156T>C (p.His52=)	rs764734750	0.00001
NM_018129.4(PNPO):c.168T>G (p.Leu56=)	rs1060504669	0.00001
NM_018129.4(PNPO):c.267T>C (p.Asp89=)	rs1266169742	0.00001
NM_018129.4(PNPO):c.282T>C (p.Ala94=)	rs1164370048	0.00001
NM_018129.4(PNPO):c.336C>T (p.Asn112=)	rs558456822	0.00001
NM_018129.4(PNPO):c.342G>A (p.Glu114=)	rs1242820576	0.00001
NM_018129.4(PNPO):c.393C>T (p.Phe131=)	rs1389481167	0.00001
NM_018129.4(PNPO):c.402G>A (p.Glu134=)	rs1220154531	0.00001
NM_018129.4(PNPO):c.417+17A>T	rs757917539	0.00001
NM_018129.4(PNPO):c.417+18G>T	rs763464383	0.00001
NM_018129.4(PNPO):c.418-9C>T	rs773201990	0.00001
NM_018129.4(PNPO):c.504G>A (p.Gly168=)	rs141387622	0.00001
NM_018129.4(PNPO):c.507T>C (p.Ala169=)	rs998099969	0.00001
NM_018129.4(PNPO):c.534C>T (p.Ile178=)	rs1473185475	0.00001
NM_018129.4(PNPO):c.546+8G>A	rs745918502	0.00001
NM_018129.4(PNPO):c.573G>A (p.Leu191=)	rs1220880028	0.00001
NM_018129.4(PNPO):c.636C>T (p.Tyr212=)	rs770600469	0.00001
NM_018129.4(PNPO):c.651G>A (p.Glu217=)	rs1355932139	0.00001
NM_018129.4(PNPO):c.747C>T (p.Arg249=)	rs1567714229	0.00001
NM_018129.3(PNPO):c.2535_2539delCAACC	rs144540976
NM_018129.4(PNPO):c.*301C>A	rs540606185
NM_018129.4(PNPO):c.100C>T (p.Leu34=)	rs2144156169
NM_018129.4(PNPO):c.102G>A (p.Leu34=)
NM_018129.4(PNPO):c.132C>T (p.Asp44=)	rs1355321284
NM_018129.4(PNPO):c.138+13G>A	rs757114373
NM_018129.4(PNPO):c.138+14G>A
NM_018129.4(PNPO):c.138+8C>A	rs1165063198
NM_018129.4(PNPO):c.138+8C>T
NM_018129.4(PNPO):c.138+9G>T
NM_018129.4(PNPO):c.139-16A>C
NM_018129.4(PNPO):c.139-17T>C
NM_018129.4(PNPO):c.139-7T>C	rs2144160524
NM_018129.4(PNPO):c.139-8T>C
NM_018129.4(PNPO):c.144T>C (p.Phe48=)
NM_018129.4(PNPO):c.162C>G (p.Thr54=)
NM_018129.4(PNPO):c.18G>A (p.Arg6=)	rs2144155784
NM_018129.4(PNPO):c.222C>T (p.Asp74=)
NM_018129.4(PNPO):c.228G>A (p.Gly76=)
NM_018129.4(PNPO):c.255C>G (p.Thr85=)
NM_018129.4(PNPO):c.255C>T (p.Thr85=)
NM_018129.4(PNPO):c.263+10G>A
NM_018129.4(PNPO):c.263+12T>C
NM_018129.4(PNPO):c.263+17G>A
NM_018129.4(PNPO):c.263+17_263+19del
NM_018129.4(PNPO):c.264-19C>G	rs1290170015
NM_018129.4(PNPO):c.264-19C>T
NM_018129.4(PNPO):c.264-7C>T
NM_018129.4(PNPO):c.276C>T (p.Pro92=)
NM_018129.4(PNPO):c.27G>A (p.Thr9=)
NM_018129.4(PNPO):c.295C>T (p.Leu99=)
NM_018129.4(PNPO):c.297G>A (p.Leu99=)	rs2144162979
NM_018129.4(PNPO):c.30G>A (p.Ala10=)
NM_018129.4(PNPO):c.318C>T (p.Gly106=)
NM_018129.4(PNPO):c.330C>T (p.Phe110=)
NM_018129.4(PNPO):c.339C>T (p.Phe113=)	rs768966816
NM_018129.4(PNPO):c.354A>G (p.Gly118=)
NM_018129.4(PNPO):c.363+11A>G
NM_018129.4(PNPO):c.363+13A>T
NM_018129.4(PNPO):c.363+16T>C
NM_018129.4(PNPO):c.363+19_363+32del	rs745695670
NM_018129.4(PNPO):c.363+20A>G	rs913036820
NM_018129.4(PNPO):c.363+7G>A
NM_018129.4(PNPO):c.364-14T>G
NM_018129.4(PNPO):c.364-4C>A	rs1598199158
NM_018129.4(PNPO):c.364-9T>G
NM_018129.4(PNPO):c.36C>T (p.Phe12=)
NM_018129.4(PNPO):c.384C>A (p.Ser128=)
NM_018129.4(PNPO):c.384C>T (p.Ser128=)
NM_018129.4(PNPO):c.39G>T (p.Gly13=)
NM_018129.4(PNPO):c.411C>T (p.Asn137=)	rs1598199254
NM_018129.4(PNPO):c.417+7del
NM_018129.4(PNPO):c.418-15G>A
NM_018129.4(PNPO):c.418-20C>T
NM_018129.4(PNPO):c.420G>A (p.Val140=)
NM_018129.4(PNPO):c.420G>T (p.Val140=)	rs770834414
NM_018129.4(PNPO):c.423T>G (p.Arg141=)
NM_018129.4(PNPO):c.450T>C (p.Pro150=)	rs138082739
NM_018129.4(PNPO):c.453G>A (p.Glu151=)	rs779377757
NM_018129.4(PNPO):c.456G>A (p.Glu152=)	rs267604926
NM_018129.4(PNPO):c.459G>A (p.Glu153=)
NM_018129.4(PNPO):c.471C>T (p.Tyr157=)
NM_018129.4(PNPO):c.498G>A (p.Gln166=)
NM_018129.4(PNPO):c.51G>A (p.Glu17=)
NM_018129.4(PNPO):c.537T>C (p.Pro179=)
NM_018129.4(PNPO):c.546+10G>A
NM_018129.4(PNPO):c.546+11C>G
NM_018129.4(PNPO):c.546+12T>C
NM_018129.4(PNPO):c.546+16C>A
NM_018129.4(PNPO):c.546+7G>A
NM_018129.4(PNPO):c.547-12C>T
NM_018129.4(PNPO):c.547-13T>G
NM_018129.4(PNPO):c.547-4A>G
NM_018129.4(PNPO):c.547-9C>T
NM_018129.4(PNPO):c.549T>C (p.Tyr183=)	rs2036008214
NM_018129.4(PNPO):c.564T>C (p.Asn188=)
NM_018129.4(PNPO):c.570A>G (p.Glu190=)
NM_018129.4(PNPO):c.576A>G (p.Glu192=)
NM_018129.4(PNPO):c.582C>G (p.Leu194=)
NM_018129.4(PNPO):c.600G>A (p.Val200=)
NM_018129.4(PNPO):c.606G>A (p.Lys202=)	rs1426539031
NM_018129.4(PNPO):c.609A>G (p.Pro203=)
NM_018129.4(PNPO):c.617+18G>A	rs745712972
NM_018129.4(PNPO):c.617+19T>C
NM_018129.4(PNPO):c.617+20C>A
NM_018129.4(PNPO):c.618-10C>G	rs748045101
NM_018129.4(PNPO):c.618-13C>T
NM_018129.4(PNPO):c.618-19C>T
NM_018129.4(PNPO):c.630C>G (p.Val210=)
NM_018129.4(PNPO):c.66C>T (p.Leu22=)	rs2144156076
NM_018129.4(PNPO):c.693C>A (p.Val231=)	rs2144166702
NM_018129.4(PNPO):c.6G>A (p.Thr2=)
NM_018129.4(PNPO):c.765C>T (p.Leu255=)
NM_018129.4(PNPO):c.81T>C (p.Gly27=)
NM_018129.4(PNPO):c.99C>T (p.Asp33=)
NM_018129.4(PNPO):c.9C>T (p.Cys3=)

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