ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease type III

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Total variants: 97
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HGVS dbSNP
NM_000028.2(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_000642.2(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.2(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.2(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.2(AGL):c.1082+1G>C rs751112302
NM_000642.2(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.2(AGL):c.1169_1172delACTA (p.Asn390Ilefs) rs1057516741
NM_000642.2(AGL):c.1185+1G>A rs1057516948
NM_000642.2(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.2(AGL):c.121G>T (p.Gly41Ter) rs1553183178
NM_000642.2(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.2(AGL):c.1384delG (p.Val462Terfs) rs786204678
NM_000642.2(AGL):c.1391dupG (p.Asp465Argfs) rs786204616
NM_000642.2(AGL):c.1400delC (p.Pro467Leufs) rs1057516913
NM_000642.2(AGL):c.140dupA (p.Tyr47Terfs) rs1057517347
NM_000642.2(AGL):c.1536_1545del10 (p.Tyr512Terfs) rs1553185883
NM_000642.2(AGL):c.1597_1598delCT (p.Leu533Serfs) rs1057516570
NM_000642.2(AGL):c.1612-1G>C rs1327892944
NM_000642.2(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.2(AGL):c.1735+1G>T rs199922945
NM_000642.2(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.2(AGL):c.18_19delGA (p.Gln6Hisfs) rs113994127
NM_000642.2(AGL):c.2001+2T>C rs1057516708
NM_000642.2(AGL):c.2001+5G>A rs1553186489
NM_000642.2(AGL):c.2011_2012delGT (p.Val671Phefs) rs1057516666
NM_000642.2(AGL):c.2120_2121delAA (p.Lys707Thrfs) rs1553186577
NM_000642.2(AGL):c.2158-2A>G rs878959417
NM_000642.2(AGL):c.2223_2224delGT (p.Gln741Hisfs) rs1553186613
NM_000642.2(AGL):c.223_224delGA (p.Asp75Terfs) rs767346840
NM_000642.2(AGL):c.2278delA (p.Ser760Alafs) rs1057517136
NM_000642.2(AGL):c.22C>T (p.Arg8Ter) rs1057516870
NM_000642.2(AGL):c.22delC (p.Arg8Glufs) rs1215043175
NM_000642.2(AGL):c.2309-1G>A rs786204481
NM_000642.2(AGL):c.2457_2460delACAA (p.Gln820Leufs) rs1553187237
NM_000642.2(AGL):c.2525delC (p.Pro842Glnfs) rs1057517425
NM_000642.2(AGL):c.2538dupT (p.Ile847Tyrfs) rs1057516984
NM_000642.2(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.2(AGL):c.2682-2A>G rs1185321132
NM_000642.2(AGL):c.2906_2907delAT (p.Tyr969Cysfs) rs1553188559
NM_000642.2(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.2(AGL):c.293+1delG rs777857395
NM_000642.2(AGL):c.294-1G>C rs757967016
NM_000642.2(AGL):c.294-2A>T rs1057516868
NM_000642.2(AGL):c.2949+2T>A rs750492389
NM_000642.2(AGL):c.2949+2T>C rs750492389
NM_000642.2(AGL):c.2950-1G>A rs1057516793
NM_000642.2(AGL):c.2950-2A>C rs770438130
NM_000642.2(AGL):c.3011delC (p.Pro1004Hisfs) rs1057516306
NM_000642.2(AGL):c.3083+2T>C rs1057516952
NM_000642.2(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.2(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.2(AGL):c.3350dup (p.Tyr1117Terfs) rs1432024176
NM_000642.2(AGL):c.3362+1G>A rs1553189468
NM_000642.2(AGL):c.3363-1G>A rs1057516513
NM_000642.2(AGL):c.3443dupA (p.Tyr1148Terfs) rs1057517079
NM_000642.2(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
NM_000642.2(AGL):c.348_373del26 (p.Ala117Leufs) rs1057516308
NM_000642.2(AGL):c.3538delT (p.Ser1180Profs) rs1553190316
NM_000642.2(AGL):c.3554delC (p.Thr1185Lysfs) rs764318570
NM_000642.2(AGL):c.3589-1G>A rs1289339080
NM_000642.2(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.2(AGL):c.3674_3696del23 (p.Gln1225Argfs) rs1553190751
NM_000642.2(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.2(AGL):c.3807dupT (p.Arg1270Terfs) rs1057517017
NM_000642.2(AGL):c.3816_3817delAG (p.Gly1273Asnfs) rs867341758
NM_000642.2(AGL):c.3911delA (p.Asn1304Ilefs) rs745757264
NM_000642.2(AGL):c.3911dupA (p.Asn1304Lysfs) rs745757264
NM_000642.2(AGL):c.3941_3949+12del21 rs1553192718
NM_000642.2(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.2(AGL):c.3G>C (p.Met1Ile) rs1553181400
NM_000642.2(AGL):c.4165_4166delCC (p.Pro1389Terfs) rs1293077915
NM_000642.2(AGL):c.4175_4176delTT (p.Phe1392Tyrfs) rs1057517405
NM_000642.2(AGL):c.4197delA (p.Ala1400Leufs) rs786204595
NM_000642.2(AGL):c.4221dupA (p.Leu1408Ilefs) rs786204655
NM_000642.2(AGL):c.4260-12A>G rs369973784
NM_000642.2(AGL):c.4322_4323dupAA (p.Gly1442Lysfs) rs1057516994
NM_000642.2(AGL):c.4323delA (p.Gly1442Valfs) rs1057516994
NM_000642.2(AGL):c.4347+1G>A rs1553193463
NM_000642.2(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.2(AGL):c.437delG (p.Arg146Asnfs) rs1057517344
NM_000642.2(AGL):c.442delA (p.Arg148Glyfs) rs1057516397
NM_000642.2(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.2(AGL):c.4481+1G>C rs1553193529
NM_000642.2(AGL):c.4481+2T>G rs1553193530
NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs) rs387906244
NM_000642.2(AGL):c.460+1G>A rs930434905
NM_000642.2(AGL):c.500dup (p.Leu168Thrfs) rs1443902661
NM_000642.2(AGL):c.64delC (p.Leu22Serfs) rs1057517057
NM_000642.2(AGL):c.664+1G>A rs61811105
NM_000642.2(AGL):c.664+3A>G rs370792293
NM_000642.2(AGL):c.672dupT (p.Ser225Terfs) rs1057516471
NM_000642.2(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.2(AGL):c.82+1G>A rs1354714214
NM_000642.2(AGL):c.84delG (p.Tyr29Metfs) rs1553183148
NM_000642.2(AGL):c.854delG (p.Arg285Glnfs) rs1553184620
NM_000642.2(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)

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