ClinVar Miner

List of variants in gene AGL reported as likely benign for Glycogen storage disease type III

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 310
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HGVS dbSNP
NM_000642.3(AGL):c.*1581G>C
NM_000642.3(AGL):c.1002G>A (p.Thr334=)
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706
NM_000642.3(AGL):c.1047T>C (p.Asp349=)
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308
NM_000642.3(AGL):c.1071C>T (p.Phe357=)
NM_000642.3(AGL):c.1074A>T (p.Ile358=)
NM_000642.3(AGL):c.1080T>C (p.His360=)
NM_000642.3(AGL):c.1082+10G>A
NM_000642.3(AGL):c.1082+10G>T
NM_000642.3(AGL):c.1083-4C>G
NM_000642.3(AGL):c.1083-6C>T
NM_000642.3(AGL):c.108C>T (p.Gly36=) rs374064723
NM_000642.3(AGL):c.1092A>G (p.Pro364=)
NM_000642.3(AGL):c.1140A>G (p.Glu380=)
NM_000642.3(AGL):c.1155G>A (p.Lys385=) rs28730701
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1173T>C (p.Tyr391=)
NM_000642.3(AGL):c.117A>G (p.Leu39=)
NM_000642.3(AGL):c.1182A>G (p.Glu394=) rs749678945
NM_000642.3(AGL):c.1185+8T>A rs202105587
NM_000642.3(AGL):c.1185+8T>C rs202105587
NM_000642.3(AGL):c.1186-9G>A
NM_000642.3(AGL):c.1194T>C (p.Asn398=) rs771739331
NM_000642.3(AGL):c.1197C>T (p.Cys399=)
NM_000642.3(AGL):c.1225C>T (p.Leu409=)
NM_000642.3(AGL):c.1283+8A>C rs933362509
NM_000642.3(AGL):c.1284-4A>G rs372612377
NM_000642.3(AGL):c.1299A>G (p.Pro433=)
NM_000642.3(AGL):c.129A>G (p.Ala43=)
NM_000642.3(AGL):c.12T>C (p.Ser4=)
NM_000642.3(AGL):c.1302T>C (p.Phe434=) rs1553185651
NM_000642.3(AGL):c.1359T>C (p.Cys453=)
NM_000642.3(AGL):c.135C>T (p.Thr45=)
NM_000642.3(AGL):c.1386A>C (p.Val462=)
NM_000642.3(AGL):c.1424-8C>T
NM_000642.3(AGL):c.1440A>G (p.Leu480=)
NM_000642.3(AGL):c.1455T>C (p.Ile485=)
NM_000642.3(AGL):c.1458C>T (p.Cys486=)
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1482C>T (p.Arg494=)
NM_000642.3(AGL):c.1524C>T (p.His508=)
NM_000642.3(AGL):c.1611+8A>G
NM_000642.3(AGL):c.1612-5T>C
NM_000642.3(AGL):c.1618T>C (p.Leu540=) rs751245907
NM_000642.3(AGL):c.1632G>A (p.Arg544=)
NM_000642.3(AGL):c.1659A>G (p.Val553=)
NM_000642.3(AGL):c.1686T>C (p.Asp562=)
NM_000642.3(AGL):c.1735+9G>A
NM_000642.3(AGL):c.1736-4G>A
NM_000642.3(AGL):c.1740A>G (p.Ala580=)
NM_000642.3(AGL):c.1749A>G (p.Ala583=) rs577669321
NM_000642.3(AGL):c.174T>C (p.Asn58=)
NM_000642.3(AGL):c.1755T>C (p.Asn585=)
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1767G>A (p.Glu589=)
NM_000642.3(AGL):c.1788T>C (p.Tyr596=)
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395
NM_000642.3(AGL):c.1842A>G (p.Pro614=) rs1570443640
NM_000642.3(AGL):c.1860G>C (p.Leu620=)
NM_000642.3(AGL):c.1875G>A (p.Thr625=) rs141944878
NM_000642.3(AGL):c.1875G>C (p.Thr625=)
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189
NM_000642.3(AGL):c.18G>A (p.Gln6=)
NM_000642.3(AGL):c.1900-10T>C
NM_000642.3(AGL):c.1900-6T>C rs749096703
NM_000642.3(AGL):c.1900-7C>T
NM_000642.3(AGL):c.1902T>C (p.His634=)
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.1911G>A (p.Ala637=) rs778511499
NM_000642.3(AGL):c.1950A>C (p.Ala650=) rs776501271
NM_000642.3(AGL):c.1950A>G (p.Ala650=)
NM_000642.3(AGL):c.1971A>T (p.Thr657=)
NM_000642.3(AGL):c.1992G>A (p.Val664=)
NM_000642.3(AGL):c.2004T>C (p.Ile668=)
NM_000642.3(AGL):c.2007A>G (p.Ser669=)
NM_000642.3(AGL):c.2010G>A (p.Val670=)
NM_000642.3(AGL):c.2016T>C (p.Ser672=)
NM_000642.3(AGL):c.2022A>G (p.Glu674=)
NM_000642.3(AGL):c.2049A>G (p.Glu683=) rs1015495997
NM_000642.3(AGL):c.2082C>T (p.Phe694=)
NM_000642.3(AGL):c.2085A>G (p.Gln695=)
NM_000642.3(AGL):c.2088C>T (p.Ser696=) rs144491501
NM_000642.3(AGL):c.2094T>C (p.Ile698=)
NM_000642.3(AGL):c.2100A>G (p.Ala700=) rs1176932146
NM_000642.3(AGL):c.2158-4T>G
NM_000642.3(AGL):c.2158-8C>G rs1570445543
NM_000642.3(AGL):c.2160G>A (p.Val720=)
NM_000642.3(AGL):c.2163T>C (p.Tyr721=)
NM_000642.3(AGL):c.2199A>T (p.Thr733=)
NM_000642.3(AGL):c.2205C>T (p.His735=)
NM_000642.3(AGL):c.2211T>G (p.Pro737=)
NM_000642.3(AGL):c.2219A>G (p.His740Arg) rs562215810
NM_000642.3(AGL):c.2229T>A (p.Val743=)
NM_000642.3(AGL):c.2238A>G (p.Val746=) rs1487514991
NM_000642.3(AGL):c.2241T>C (p.Ser747=) rs754816668
NM_000642.3(AGL):c.2241T>G (p.Ser747=)
NM_000642.3(AGL):c.2259T>C (p.Asn753=)
NM_000642.3(AGL):c.2271A>T (p.Ser757=)
NM_000642.3(AGL):c.2308+10T>G
NM_000642.3(AGL):c.2308+8A>C
NM_000642.3(AGL):c.2309-8A>G
NM_000642.3(AGL):c.2319A>G (p.Glu773=) rs1570450735
NM_000642.3(AGL):c.231T>C (p.Ser77=)
NM_000642.3(AGL):c.2337T>C (p.Ala779=) rs928189171
NM_000642.3(AGL):c.2358G>A (p.Thr786=)
NM_000642.3(AGL):c.2358G>T (p.Thr786=)
NM_000642.3(AGL):c.2364T>C (p.Pro788=) rs1368630389
NM_000642.3(AGL):c.2367T>C (p.Tyr789=)
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.2433+9G>A
NM_000642.3(AGL):c.2442A>G (p.Glu814=)
NM_000642.3(AGL):c.2466A>T (p.Gly822=)
NM_000642.3(AGL):c.246A>G (p.Lys82=) rs1422529746
NM_000642.3(AGL):c.2481G>C (p.Gly827=) rs1323938645
NM_000642.3(AGL):c.2484C>T (p.Pro828=) rs1570451390
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys) rs757870729
NM_000642.3(AGL):c.2546+10T>C rs74551473
NM_000642.3(AGL):c.255G>A (p.Leu85=)
NM_000642.3(AGL):c.2562A>G (p.Pro854=)
NM_000642.3(AGL):c.2565T>C (p.His855=)
NM_000642.3(AGL):c.2568A>T (p.Ala856=)
NM_000642.3(AGL):c.2574C>T (p.Val858=) rs772038934
NM_000642.3(AGL):c.2637A>G (p.Leu879=)
NM_000642.3(AGL):c.2682-7T>C rs375256646
NM_000642.3(AGL):c.2763G>C (p.Gly921=) rs765549237
NM_000642.3(AGL):c.2769T>C (p.Tyr923=)
NM_000642.3(AGL):c.2802A>G (p.Ala934=)
NM_000642.3(AGL):c.2812+7A>G
NM_000642.3(AGL):c.2812+9A>G
NM_000642.3(AGL):c.2814T>C (p.Gly938=) rs147590282
NM_000642.3(AGL):c.2814T>G (p.Gly938=) rs147590282
NM_000642.3(AGL):c.2823T>C (p.Ser941=) rs1570463461
NM_000642.3(AGL):c.2832A>T (p.Ala944=) rs1570463525
NM_000642.3(AGL):c.2835A>G (p.Glu945=)
NM_000642.3(AGL):c.2904C>T (p.Asp968=)
NM_000642.3(AGL):c.293+7C>G
NM_000642.3(AGL):c.293+8A>T
NM_000642.3(AGL):c.293+9G>C
NM_000642.3(AGL):c.294-6C>T
NM_000642.3(AGL):c.2949+8G>C
NM_000642.3(AGL):c.2950-9T>C
NM_000642.3(AGL):c.2955T>C (p.Gly985=) rs1383175689
NM_000642.3(AGL):c.2967G>A (p.Gln989=)
NM_000642.3(AGL):c.297T>C (p.Asn99=)
NM_000642.3(AGL):c.2983C>T (p.Leu995=)
NM_000642.3(AGL):c.2991G>A (p.Gln997=) rs1570464401
NM_000642.3(AGL):c.3012A>G (p.Pro1004=)
NM_000642.3(AGL):c.3042A>G (p.Ala1014=)
NM_000642.3(AGL):c.3083+6_3083+9dup
NM_000642.3(AGL):c.3083+8C>A
NM_000642.3(AGL):c.3084-5dup
NM_000642.3(AGL):c.3084-8T>C rs186402161
NM_000642.3(AGL):c.3087T>C (p.Phe1029=)
NM_000642.3(AGL):c.3123A>G (p.Ser1041=)
NM_000642.3(AGL):c.3124T>C (p.Leu1042=)
NM_000642.3(AGL):c.3141G>T (p.Leu1047=) rs756930451
NM_000642.3(AGL):c.3147A>G (p.Gly1049=)
NM_000642.3(AGL):c.3150A>G (p.Val1050=)
NM_000642.3(AGL):c.3162T>C (p.Pro1054=)
NM_000642.3(AGL):c.3171A>C (p.Pro1057=)
NM_000642.3(AGL):c.3186C>T (p.Ala1062=)
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398
NM_000642.3(AGL):c.3198A>G (p.Val1066=)
NM_000642.3(AGL):c.3213T>C (p.Asn1071=)
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3237A>G (p.Gln1079=) rs757615870
NM_000642.3(AGL):c.3252A>G (p.Leu1084=)
NM_000642.3(AGL):c.3260-6T>G
NM_000642.3(AGL):c.3260-9T>C
NM_000642.3(AGL):c.3276T>C (p.Ser1092=)
NM_000642.3(AGL):c.3279T>C (p.Ser1093=)
NM_000642.3(AGL):c.3279T>G (p.Ser1093=)
NM_000642.3(AGL):c.3300A>C (p.Gly1100=)
NM_000642.3(AGL):c.3331C>T (p.Leu1111=)
NM_000642.3(AGL):c.333C>T (p.Pro111=)
NM_000642.3(AGL):c.3342T>C (p.Thr1114=)
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3351T>C (p.Tyr1117=)
NM_000642.3(AGL):c.3362+9G>A rs747485058
NM_000642.3(AGL):c.3363-8del
NM_000642.3(AGL):c.3375A>G (p.Leu1125=)
NM_000642.3(AGL):c.3399T>C (p.His1133=)
NM_000642.3(AGL):c.3405C>T (p.Leu1135=) rs1553190279
NM_000642.3(AGL):c.3411T>A (p.Pro1137=) rs1185628017
NM_000642.3(AGL):c.3418C>T (p.Leu1140=)
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3531C>T (p.Cys1177=)
NM_000642.3(AGL):c.3588+10T>C rs761455023
NM_000642.3(AGL):c.3589-7C>T
NM_000642.3(AGL):c.3633C>T (p.His1211=)
NM_000642.3(AGL):c.3666T>C (p.Ala1222=)
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937
NM_000642.3(AGL):c.3682C>A (p.Arg1228=)
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729
NM_000642.3(AGL):c.3700+9C>T
NM_000642.3(AGL):c.3705T>C (p.Phe1235=)
NM_000642.3(AGL):c.3738A>C (p.Gly1246=)
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718
NM_000642.3(AGL):c.3765T>C (p.Asn1255=)
NM_000642.3(AGL):c.3774A>G (p.Thr1258=)
NM_000642.3(AGL):c.3822C>T (p.Ile1274=) rs143885684
NM_000642.3(AGL):c.384T>C (p.Thr128=) rs1571227820
NM_000642.3(AGL):c.3858T>C (p.Ile1286=)
NM_000642.3(AGL):c.3879T>C (p.Ala1293=)
NM_000642.3(AGL):c.3882T>A (p.Val1294=) rs1570508414
NM_000642.3(AGL):c.3918C>T (p.Phe1306=)
NM_000642.3(AGL):c.3924T>C (p.Tyr1308=)
NM_000642.3(AGL):c.393A>G (p.Thr131=)
NM_000642.3(AGL):c.3972T>C (p.Tyr1324=) rs768746665
NM_000642.3(AGL):c.3975T>C (p.Asp1325=)
NM_000642.3(AGL):c.3978G>A (p.Glu1326=)
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.3(AGL):c.4002C>T (p.Asn1334=)
NM_000642.3(AGL):c.4014A>G (p.Leu1338=)
NM_000642.3(AGL):c.4026C>T (p.Ser1342=)
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811
NM_000642.3(AGL):c.4053G>A (p.Lys1351=) rs1570511119
NM_000642.3(AGL):c.4098T>C (p.Tyr1366=)
NM_000642.3(AGL):c.4104T>G (p.Ala1368=)
NM_000642.3(AGL):c.4113T>C (p.Pro1371=)
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) rs1057521342
NM_000642.3(AGL):c.4131C>T (p.Leu1377=)
NM_000642.3(AGL):c.4146C>T (p.Thr1382=) rs767272437
NM_000642.3(AGL):c.4161+10T>G
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832
NM_000642.3(AGL):c.4182A>G (p.Thr1394=) rs756382269
NM_000642.3(AGL):c.4212A>C (p.Ala1404=)
NM_000642.3(AGL):c.4221A>G (p.Lys1407=)
NM_000642.3(AGL):c.4222T>C (p.Leu1408=)
NM_000642.3(AGL):c.4260-4G>T rs767426474
NM_000642.3(AGL):c.4260-9A>G
NM_000642.3(AGL):c.4293A>G (p.Ala1431=)
NM_000642.3(AGL):c.4308C>T (p.Asn1436=)
NM_000642.3(AGL):c.4344A>C (p.Gly1448=)
NM_000642.3(AGL):c.4344A>T (p.Gly1448=)
NM_000642.3(AGL):c.4348-7T>C
NM_000642.3(AGL):c.4348-7T>G
NM_000642.3(AGL):c.4368G>A (p.Gly1456=) rs749989508
NM_000642.3(AGL):c.4389A>G (p.Leu1463=) rs148555004
NM_000642.3(AGL):c.4398C>T (p.Ser1466=) rs865973751
NM_000642.3(AGL):c.4410C>T (p.Gly1470=)
NM_000642.3(AGL):c.4413G>A (p.Pro1471=) rs1049817296
NM_000642.3(AGL):c.4419T>C (p.Thr1473=)
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4443T>G (p.Val1481=)
NM_000642.3(AGL):c.4455T>G (p.Leu1485=) rs1297003611
NM_000642.3(AGL):c.4464T>C (p.His1488=)
NM_000642.3(AGL):c.4473T>C (p.His1491=) rs1553193527
NM_000642.3(AGL):c.4476T>G (p.Leu1492=)
NM_000642.3(AGL):c.4481+10C>G rs1026785989
NM_000642.3(AGL):c.4481+9T>C
NM_000642.3(AGL):c.4488T>G (p.Pro1496=) rs1570526626
NM_000642.3(AGL):c.4503A>G (p.Pro1501=)
NM_000642.3(AGL):c.4506A>G (p.Glu1502=)
NM_000642.3(AGL):c.4521T>C (p.Asn1507=)
NM_000642.3(AGL):c.4527G>A (p.Gln1509=) rs373624039
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) rs752519483
NM_000642.3(AGL):c.4569T>C (p.Ala1523=)
NM_000642.3(AGL):c.4572T>G (p.Thr1524=) rs1322602688
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.460+7T>C rs1292593653
NM_000642.3(AGL):c.461-4G>A rs769201662
NM_000642.3(AGL):c.487T>C (p.Leu163=) rs749851190
NM_000642.3(AGL):c.52C>T (p.Leu18=)
NM_000642.3(AGL):c.594A>G (p.Gly198=)
NM_000642.3(AGL):c.603G>A (p.Val201=)
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.615A>G (p.Lys205=) rs1571232440
NM_000642.3(AGL):c.618G>A (p.Lys206=) rs748570736
NM_000642.3(AGL):c.621A>G (p.Glu207=) rs910311069
NM_000642.3(AGL):c.639T>C (p.Ile213=)
NM_000642.3(AGL):c.665-7C>T
NM_000642.3(AGL):c.665-9T>C rs373354556
NM_000642.3(AGL):c.66C>G (p.Leu22=)
NM_000642.3(AGL):c.675T>C (p.Ser225=)
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.696A>G (p.Pro232=)
NM_000642.3(AGL):c.69C>T (p.Phe23=) rs1571206197
NM_000642.3(AGL):c.729C>T (p.His243=)
NM_000642.3(AGL):c.753C>T (p.Asp251=)
NM_000642.3(AGL):c.75T>G (p.Leu25=)
NM_000642.3(AGL):c.762T>C (p.Leu254=)
NM_000642.3(AGL):c.786A>G (p.Ala262=)
NM_000642.3(AGL):c.78A>G (p.Glu26=) rs143110759
NM_000642.3(AGL):c.798C>T (p.Tyr266=)
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.82+4A>C rs765098686
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.846+14G>A rs376827010
NM_000642.3(AGL):c.847-8T>C
NM_000642.3(AGL):c.87T>C (p.Tyr29=)
NM_000642.3(AGL):c.906C>T (p.Phe302=)
NM_000642.3(AGL):c.918C>T (p.Val306=) rs1571243841
NM_000642.3(AGL):c.927G>A (p.Ala309=) rs181804327
NM_000642.3(AGL):c.93A>G (p.Leu31=) rs757542271
NM_000642.3(AGL):c.942A>G (p.Arg314=)
NM_000642.3(AGL):c.951T>G (p.Leu317=)
NM_000642.3(AGL):c.958+10A>G
NM_000642.3(AGL):c.959-4T>G
NM_000642.3(AGL):c.959-8T>C
NM_000642.3(AGL):c.966G>A (p.Arg322=)
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527

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