ClinVar Miner

List of variants studied for Glycogen storage disease type III by Natera, Inc.

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ClinVar version:
Total variants: 107
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HGVS dbSNP
NM_000642.3(AGL):c.-10A>G rs2307130
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
NM_000642.3(AGL):c.1076_1078dup (p.Pro359dup)
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) rs146493448
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) rs538916479
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) rs1365513585
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1864A>G (p.Met622Val) rs145517369
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189
NM_000642.3(AGL):c.1899+3A>G
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.2001+8T>C rs3736296
NM_000642.3(AGL):c.2002-5T>A
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) rs771211030
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) rs746130741
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) rs149331873
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
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.3383C>T (p.Ala1128Val) rs1225426505
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.3452G>A (p.Arg1151Gln)
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.368C>T (p.Pro123Leu)
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.3762C>A (p.Phe1254Leu) rs1324875747
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) rs892629109
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys)
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) rs777095374
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) rs143815159
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.805A>G (p.Lys269Glu)
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306
NM_000642.3(AGL):c.921C>A (p.Asn307Lys)

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