ClinVar Miner

List of variants in gene PHKG2 studied for Glycogen storage disease IXc

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Gene type:
ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.271+38C>T rs4889504 0.96355
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00332
NM_000294.3(PHKG2):c.927+17C>G rs143558058 0.00288
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000294.3(PHKG2):c.-28G>T rs556945561 0.00070
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925 0.00032
NM_000294.3(PHKG2):c.*22C>T rs372172604 0.00031
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610 0.00024
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070 0.00019
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151 0.00017
NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val) rs141025408 0.00014
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581 0.00012
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) rs777228104 0.00009
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672 0.00008
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln) rs572115942 0.00008
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) rs367711698 0.00007
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139 0.00006
NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys) rs370423261 0.00006
NM_000294.3(PHKG2):c.96-11G>A rs751600886 0.00006
NM_000294.3(PHKG2):c.516C>T (p.Phe172=) rs758301470 0.00005
NM_000294.3(PHKG2):c.556+5G>T rs369684098 0.00005
NM_000294.3(PHKG2):c.801+18G>A rs754293230 0.00005
NM_000294.3(PHKG2):c.1071C>G (p.Leu357=) rs200630126 0.00004
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser) rs373915359 0.00004
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462 0.00004
NM_000294.3(PHKG2):c.*47G>A rs767591090 0.00003
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp) rs564686049 0.00003
NM_000294.3(PHKG2):c.152C>T (p.Ala51Val) rs770253840 0.00003
NM_000294.3(PHKG2):c.802-17C>T rs772388120 0.00003
NM_000294.3(PHKG2):c.911C>A (p.Pro304His) rs781099286 0.00003
NM_000294.3(PHKG2):c.-3A>G rs1049581523 0.00002
NM_000294.3(PHKG2):c.1031G>A (p.Arg344Gln) rs532137455 0.00002
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) rs746361026 0.00002
NM_000294.3(PHKG2):c.153G>A (p.Ala51=) rs368095671 0.00002
NM_000294.3(PHKG2):c.927+18A>G rs369022609 0.00002
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln) rs756345604 0.00002
NM_000294.3(PHKG2):c.1026G>A (p.Ala342=) rs200852313 0.00001
NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser) rs920855301 0.00001
NM_000294.3(PHKG2):c.192T>C (p.Pro64=) rs372292588 0.00001
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) rs753644625 0.00001
NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter) rs1450937339 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) rs779594016 0.00001
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter) rs778952896 0.00001
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244 0.00001
NM_000294.3(PHKG2):c.579T>C (p.Tyr193=) rs992271371 0.00001
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) rs192866993 0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) rs767427889 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_000294.3(PHKG2):c.864C>T (p.His288=) rs1336288802 0.00001
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808 0.00001
NM_000294.3(PHKG2):c.95+11G>A rs886051910 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NC_000016.9:g.(?_30760142)_(30768418_?)del
NC_000016.9:g.(?_30760142)_(30768418_?)dup
NC_000016.9:g.(?_30762850)_(30762944_?)del
NM_000294.3(PHKG2):c.1002T>C (p.Asn334=)
NM_000294.3(PHKG2):c.1008G>T (p.Leu336=)
NM_000294.3(PHKG2):c.1012A>C (p.Arg338=)
NM_000294.3(PHKG2):c.1017C>T (p.Asp339=)
NM_000294.3(PHKG2):c.1023T>C (p.Tyr341=)
NM_000294.3(PHKG2):c.1027C>T (p.Leu343=)
NM_000294.3(PHKG2):c.1032G>A (p.Arg344=)
NM_000294.3(PHKG2):c.1032G>T (p.Arg344=)
NM_000294.3(PHKG2):c.1035A>G (p.Ser345=) rs2151310822
NM_000294.3(PHKG2):c.1044C>T (p.His348=)
NM_000294.3(PHKG2):c.1050C>A (p.Ile350=)
NM_000294.3(PHKG2):c.1050C>T (p.Ile350=) rs371914785
NM_000294.3(PHKG2):c.1053C>T (p.Asp351=)
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.1074C>T (p.Tyr358=)
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=) rs747926397
NM_000294.3(PHKG2):c.1089G>A (p.Lys363=)
NM_000294.3(PHKG2):c.1095G>A (p.Gly365=)
NM_000294.3(PHKG2):c.1113G>A (p.Ala371=)
NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)
NM_000294.3(PHKG2):c.1134C>T (p.Pro378=)
NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)
NM_000294.3(PHKG2):c.1143T>A (p.Pro381=)
NM_000294.3(PHKG2):c.1143T>C (p.Pro381=)
NM_000294.3(PHKG2):c.1149C>G (p.Pro383=)
NM_000294.3(PHKG2):c.114C>G (p.Val38=)
NM_000294.3(PHKG2):c.114C>T (p.Val38=)
NM_000294.3(PHKG2):c.116G>A (p.Arg39His)
NM_000294.3(PHKG2):c.1170G>A (p.Glu390=)
NM_000294.3(PHKG2):c.1179T>C (p.Ser393=)
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) rs886051914
NM_000294.3(PHKG2):c.1191T>C (p.Thr397=)
NM_000294.3(PHKG2):c.1203C>T (p.Ala401=)
NM_000294.3(PHKG2):c.1206G>T (p.Val402=)
NM_000294.3(PHKG2):c.1215G>A (p.Leu405=)
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.138T>G (p.Thr46=)
NM_000294.3(PHKG2):c.144C>T (p.His48=)
NM_000294.3(PHKG2):c.156G>A (p.Val52=)
NM_000294.3(PHKG2):c.158_160del (p.Lys53del) rs2053338364
NM_000294.3(PHKG2):c.166del (p.Glu56fs)
NM_000294.3(PHKG2):c.177T>C (p.Ala59=)
NM_000294.3(PHKG2):c.180G>A (p.Glu60=)
NM_000294.3(PHKG2):c.189T>C (p.Ser63=)
NM_000294.3(PHKG2):c.18G>T (p.Gly6=)
NM_000294.3(PHKG2):c.199C>T (p.Leu67=)
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
NM_000294.3(PHKG2):c.21G>C (p.Pro7=)
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
NM_000294.3(PHKG2):c.24G>A (p.Glu8=)
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.252C>T (p.Val84=)
NM_000294.3(PHKG2):c.255C>T (p.Ala85=)
NM_000294.3(PHKG2):c.264C>G (p.Pro88=)
NM_000294.3(PHKG2):c.265dup (p.His89fs)
NM_000294.3(PHKG2):c.271+12T>C
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.271+19C>T
NM_000294.3(PHKG2):c.271+6G>A rs767677860
NM_000294.3(PHKG2):c.272-12C>G
NM_000294.3(PHKG2):c.272-12C>T
NM_000294.3(PHKG2):c.272-15T>C
NM_000294.3(PHKG2):c.272-18C>T
NM_000294.3(PHKG2):c.272-9T>C
NM_000294.3(PHKG2):c.273C>T (p.Ile91=)
NM_000294.3(PHKG2):c.276C>T (p.Thr92=)
NM_000294.3(PHKG2):c.277del (p.Leu93fs) rs1596680941
NM_000294.3(PHKG2):c.282C>T (p.Ile94=)
NM_000294.3(PHKG2):c.285T>C (p.Asp95=)
NM_000294.3(PHKG2):c.288C>G (p.Ser96=)
NM_000294.3(PHKG2):c.291C>T (p.Tyr97=)
NM_000294.3(PHKG2):c.313C>T (p.Leu105=)
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.326+15G>C
NM_000294.3(PHKG2):c.327-15C>T
NM_000294.3(PHKG2):c.327-16C>T
NM_000294.3(PHKG2):c.327-17G>A
NM_000294.3(PHKG2):c.327-7C>T
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)
NM_000294.3(PHKG2):c.336G>A (p.Lys112=)
NM_000294.3(PHKG2):c.348dup (p.Asp117Ter)
NM_000294.3(PHKG2):c.357C>G (p.Leu119=)
NM_000294.3(PHKG2):c.366G>A (p.Lys122=)
NM_000294.3(PHKG2):c.369G>T (p.Val123=)
NM_000294.3(PHKG2):c.385G>T (p.Glu129Ter)
NM_000294.3(PHKG2):c.392+10G>A
NM_000294.3(PHKG2):c.392+13C>T
NM_000294.3(PHKG2):c.392+18A>C
NM_000294.3(PHKG2):c.392+19G>T
NM_000294.3(PHKG2):c.392+2T>G
NM_000294.3(PHKG2):c.392+7G>T
NM_000294.3(PHKG2):c.393-12C>G
NM_000294.3(PHKG2):c.393-12C>T
NM_000294.3(PHKG2):c.393-18C>T
NM_000294.3(PHKG2):c.393-2A>G
NM_000294.3(PHKG2):c.393-4C>T rs2053377288
NM_000294.3(PHKG2):c.393-7C>T
NM_000294.3(PHKG2):c.420A>G (p.Ala140=)
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.454C>A (p.Arg152=)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000294.3(PHKG2):c.459T>C (p.Asp153=)
NM_000294.3(PHKG2):c.468C>T (p.Pro156=)
NM_000294.3(PHKG2):c.480C>T (p.Leu160=)
NM_000294.3(PHKG2):c.489C>T (p.Asp163=)
NM_000294.3(PHKG2):c.48C>T (p.Ala16=)
NM_000294.3(PHKG2):c.492T>C (p.Asn164=)
NM_000294.3(PHKG2):c.519G>T (p.Gly173=)
NM_000294.3(PHKG2):c.51C>T (p.Ala17=)
NM_000294.3(PHKG2):c.531C>T (p.His177=)
NM_000294.3(PHKG2):c.539del (p.Pro180fs) rs2053379013
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser) rs2053379091
NM_000294.3(PHKG2):c.543C>A (p.Gly181=)
NM_000294.3(PHKG2):c.556+11C>G rs2053379816
NM_000294.3(PHKG2):c.556+14G>A
NM_000294.3(PHKG2):c.556+18C>T
NM_000294.3(PHKG2):c.556+8G>T
NM_000294.3(PHKG2):c.557-13C>T
NM_000294.3(PHKG2):c.557-1_557delinsAG rs2151310104
NM_000294.3(PHKG2):c.557-20T>C
NM_000294.3(PHKG2):c.561G>A (p.Leu187=)
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.576G>A (p.Gly192=)
NM_000294.3(PHKG2):c.591G>A (p.Glu197=)
NM_000294.3(PHKG2):c.594C>T (p.Ile198=)
NM_000294.3(PHKG2):c.612T>C (p.Asp204=)
NM_000294.3(PHKG2):c.618C>T (p.Thr206=)
NM_000294.3(PHKG2):c.627C>T (p.Gly209=)
NM_000294.3(PHKG2):c.630T>C (p.Tyr210=)
NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del) rs2151310152
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
NM_000294.3(PHKG2):c.642C>T (p.Val214=)
NM_000294.3(PHKG2):c.645C>T (p.Asp215=)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) rs2053424230
NM_000294.3(PHKG2):c.647+12G>A
NM_000294.3(PHKG2):c.647+14C>T
NM_000294.3(PHKG2):c.647+17C>G
NM_000294.3(PHKG2):c.647+20C>G
NM_000294.3(PHKG2):c.647+20del
NM_000294.3(PHKG2):c.648-11C>T
NM_000294.3(PHKG2):c.648-13G>A
NM_000294.3(PHKG2):c.648-15C>T
NM_000294.3(PHKG2):c.648-2_648del
NM_000294.3(PHKG2):c.648-4C>G
NM_000294.3(PHKG2):c.648-7T>C
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577
NM_000294.3(PHKG2):c.663G>A (p.Val221=)
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
NM_000294.3(PHKG2):c.678C>T (p.Leu226=)
NM_000294.3(PHKG2):c.690G>A (p.Ser230=)
NM_000294.3(PHKG2):c.696C>G (p.Pro232=)
NM_000294.3(PHKG2):c.698T>C (p.Phe233Ser)
NM_000294.3(PHKG2):c.6G>T (p.Thr2=)
NM_000294.3(PHKG2):c.705C>T (p.His235=)
NM_000294.3(PHKG2):c.718C>T (p.Leu240=)
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) rs1596677187
NM_000294.3(PHKG2):c.720G>A (p.Leu240=)
NM_000294.3(PHKG2):c.729C>T (p.Arg243=)
NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)
NM_000294.3(PHKG2):c.72C>T (p.Tyr24=)
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter) rs2053428286
NM_000294.3(PHKG2):c.756C>T (p.Phe252=)
NM_000294.3(PHKG2):c.765C>T (p.Pro255=)
NM_000294.3(PHKG2):c.767del (p.Glu256fs)
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
NM_000294.3(PHKG2):c.783del (p.Ser262fs) rs1372753669
NM_000294.3(PHKG2):c.786C>T (p.Ser262=)
NM_000294.3(PHKG2):c.789T>C (p.Thr263=)
NM_000294.3(PHKG2):c.7C>T (p.Leu3=)
NM_000294.3(PHKG2):c.800T>G (p.Leu267Arg)
NM_000294.3(PHKG2):c.800_801+34del rs2151310413
NM_000294.3(PHKG2):c.801+10G>T
NM_000294.3(PHKG2):c.801+11G>A
NM_000294.3(PHKG2):c.801+13T>C
NM_000294.3(PHKG2):c.801+14G>C
NM_000294.3(PHKG2):c.801+15A>G
NM_000294.3(PHKG2):c.801+17A>G
NM_000294.3(PHKG2):c.801+20del
NM_000294.3(PHKG2):c.801+7G>A
NM_000294.3(PHKG2):c.802-10T>G
NM_000294.3(PHKG2):c.802-11G>C
NM_000294.3(PHKG2):c.802-13G>T
NM_000294.3(PHKG2):c.802-16T>C
NM_000294.3(PHKG2):c.802-2A>C
NM_000294.3(PHKG2):c.813G>A (p.Leu271=)
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
NM_000294.3(PHKG2):c.831G>A (p.Glu277=)
NM_000294.3(PHKG2):c.836G>A (p.Arg279His) rs2151310526
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
NM_000294.3(PHKG2):c.852G>A (p.Gln284=)
NM_000294.3(PHKG2):c.855C>A (p.Ala285=)
NM_000294.3(PHKG2):c.867C>G (p.Pro289=)
NM_000294.3(PHKG2):c.870C>T (p.Phe290=)
NM_000294.3(PHKG2):c.879T>C (p.Arg293=)
NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro) rs780358808
NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser)
NM_000294.3(PHKG2):c.913dup (p.Arg305fs) rs2151310570
NM_000294.3(PHKG2):c.918G>A (p.Gln306=)
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
NM_000294.3(PHKG2):c.927+12T>C
NM_000294.3(PHKG2):c.927+13G>A rs371298131
NM_000294.3(PHKG2):c.927+15A>G
NM_000294.3(PHKG2):c.927+15A>T
NM_000294.3(PHKG2):c.927+19G>T
NM_000294.3(PHKG2):c.927+1G>A rs1445993948
NM_000294.3(PHKG2):c.927+7C>T
NM_000294.3(PHKG2):c.927+8T>C
NM_000294.3(PHKG2):c.928-12C>T
NM_000294.3(PHKG2):c.928-13C>A
NM_000294.3(PHKG2):c.928-13C>T
NM_000294.3(PHKG2):c.928-16C>T
NM_000294.3(PHKG2):c.928-20C>T
NM_000294.3(PHKG2):c.928-5C>G
NM_000294.3(PHKG2):c.928-8C>G
NM_000294.3(PHKG2):c.928-9C>A
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.948G>C (p.Leu316=)
NM_000294.3(PHKG2):c.95+12G>A
NM_000294.3(PHKG2):c.95+12G>T
NM_000294.3(PHKG2):c.95+15A>G
NM_000294.3(PHKG2):c.957A>G (p.Gly319=)
NM_000294.3(PHKG2):c.96-12C>T
NM_000294.3(PHKG2):c.96-14T>C
NM_000294.3(PHKG2):c.96-18A>G
NM_000294.3(PHKG2):c.96-7C>G rs898984695
NM_000294.3(PHKG2):c.966C>T (p.Ala322=)
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
NM_000294.3(PHKG2):c.993G>A (p.Leu331=)
NM_000294.3(PHKG2):c.996C>T (p.Thr332=)
NM_000294.3(PHKG2):c.9G>A (p.Leu3=)

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