ClinVar Miner

List of variants reported as pathogenic for disorder of glycogen metabolism by OMIM

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) rs121918021 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser) rs121918423 0.00006
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591 0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter) rs771477447 0.00001
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg) rs780067980 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
A353P
AGL, EcoRI FRAGMENT INS
G213G
G317D
G372S
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+4A>G rs587776757
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) rs104894569
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4:c.430_782del
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1341+1G>T rs755419857
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.428-2A>C rs895690691
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) rs137852286
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) rs137852285
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) rs137852287
NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg) rs2147806786
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.421_423del (p.Phe141del) rs587776732
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) rs137852295
NM_000292.3(PHKA2):c.717+1G>T rs587776731
NM_000292.3(PHKA2):c.750_752del (p.Thr251del) rs587776733
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) rs137852289
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.265dup (p.His89fs)
NM_000294.3(PHKG2):c.277del (p.Leu93fs) rs1596680941
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
NM_000340.2(SLC2A2):c.1051del (p.Val351fs) rs1715390589
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) rs121909745
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) rs28928874
NM_000340.2(SLC2A2):c.137del (p.Leu46fs)
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) rs121909746
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) rs118203964
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser) rs1272300904
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.871+1G>T rs1943574435
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs) rs2134631556
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_002294.3(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_002294.3(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002294.3(LAMP2):c.864+4A>G rs2147281356
NM_002294.3(LAMP2):c.864+5G>C rs1352584474
NM_002294.3(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.3(LAMP2):c.974delinsAA (p.Leu325fs)
NM_002637.4(PHKA1):c.3498+1G>C
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg) rs137852548
NM_002637.4(PHKA1):c.695del (p.Ala232fs) rs1603266754
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val) rs137852547
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_004130.4(GYG1):c.248C>T (p.Thr83Met) rs267606858
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter) rs727502870
NM_005566.4(LDHA):c.759_778del (p.Leu254fs)
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) rs2058376262
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) rs119103254
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) rs119103257
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr) rs730882148
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_021957.4(GYS2):c.1336C>G (p.His446Asp) rs121918425
NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro) rs121918424
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.941+1G>C rs587776831
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter) rs727503765
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr) rs2151144481
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543
PGK1, IVS4, G-T, 417+1
SLC2A2, 1-BP INS, 793C

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