ClinVar Miner

List of variants studied for Glycogen storage disease type III by Counsyl

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Total variants: 129
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HGVS dbSNP
NM_000642.2(AGL):c.84delG (p.Tyr29Metfs) rs1553183148
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1082+1G>C rs751112302
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1185+1G>A rs1057516948
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.121G>T (p.Gly41Ter) rs1553183178
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn) rs1553185488
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1400del (p.Pro467fs) rs1057516913
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
NM_000642.3(AGL):c.1612-1G>C rs1327892944
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) rs1361477641
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1877A>G (p.His626Arg) rs1553186368
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) rs1553186370
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639dup) rs1553186447
NM_000642.3(AGL):c.2001+2T>C rs1057516708
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) rs1553186577
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del) rs1553183207
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del) rs766308910
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2525del (p.Pro842fs) rs1057517425
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2681+1G>A rs201201443
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2682-2A>G rs1185321132
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs) rs1553187957
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) rs1553188559
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2949+2T>C rs750492389
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del) rs1553188647
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3083+2T>C rs1057516952
NM_000642.3(AGL):c.3083+5_3083+6del rs781189361
NM_000642.3(AGL):c.3191_3193dup (p.Asp1065_Val1066insVal) rs1553188824
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3259+3A>T rs748859491
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3363-1G>A rs1057516513
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3538del (p.Ser1180fs) rs1553190316
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3836+1_3836+2dup rs1553192407
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3941_3949+12del rs1553192718
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.3G>C (p.Met1Ile) rs1553181400
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs) rs1057517405
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.442del (p.Arg148fs) rs1057516397
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
NM_000642.3(AGL):c.4481+1G>C rs1553193529
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.83-17_83-16del rs751326594
NM_000642.3(AGL):c.83-19del rs1553183146
NM_000642.3(AGL):c.83-24del rs1553183144
NM_000642.3(AGL):c.83-29G>T rs767476472
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.958+1G>A rs1553184657

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