ClinVar Miner

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

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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