ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type III by Genome-Nilou Lab

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ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.*832G>A rs181486858 0.00261
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.2(AGL):c.-208C>T rs563389574 0.00192
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00110
NM_000642.3(AGL):c.*604A>G rs189939228 0.00106
NM_000642.2(AGL):c.-134C>G rs548243205 0.00057
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000642.3(AGL):c.*595A>G rs763929813 0.00051
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_000642.3(AGL):c.*564T>C rs552782825 0.00045
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763 0.00039
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648 0.00026
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) rs200459772 0.00022
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00019
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740 0.00016
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636 0.00014
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360 0.00011
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr) rs374651629 0.00011
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00010
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00010
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337 0.00009
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630 0.00009
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157 0.00009
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000642.3(AGL):c.1423+3A>G rs766117687 0.00008
NM_000642.3(AGL):c.3116A>T (p.His1039Leu) rs1430797073 0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543 0.00008
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743 0.00007
NM_000642.3(AGL):c.846+8T>A rs372517543 0.00007
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00006
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser) rs909008103 0.00006
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312 0.00006
NM_000642.3(AGL):c.188G>A (p.Arg63His) rs199958942 0.00006
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002 0.00006
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040 0.00006
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089 0.00006
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890 0.00006
NM_000642.3(AGL):c.847-7T>A rs750785301 0.00006
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg) rs752502818 0.00005
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000642.3(AGL):c.1049T>C (p.Met350Thr) rs761122742 0.00004
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe) rs140002583 0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378 0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969 0.00004
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) rs147586981 0.00004
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404 0.00004
NM_000642.3(AGL):c.3258A>T (p.Ala1086=) rs779468425 0.00004
NM_000642.3(AGL):c.325G>T (p.Val109Leu) rs369068676 0.00004
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) rs773625464 0.00004
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00004
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000642.3(AGL):c.1042G>A (p.Val348Ile) rs544658310 0.00003
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) rs752153469 0.00003
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396 0.00003
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val) rs867496787 0.00003
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980 0.00003
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr) rs749118487 0.00003
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys) rs886042149 0.00003
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164 0.00003
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) rs747879201 0.00002
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile) rs897697440 0.00002
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905 0.00002
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084 0.00002
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly) rs1245795149 0.00002
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg) rs769337147 0.00002
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) rs768133891 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln) rs772774189 0.00002
NM_000642.3(AGL):c.3836+3A>G rs372921189 0.00002
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917 0.00002
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573 0.00001
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys) rs775949246 0.00001
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822 0.00001
NM_000642.3(AGL):c.1255G>A (p.Val419Ile) rs1236981513 0.00001
NM_000642.3(AGL):c.1388T>A (p.Met463Lys) rs775358277 0.00001
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482 0.00001
NM_000642.3(AGL):c.187C>T (p.Arg63Cys) rs778524671 0.00001
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843 0.00001
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) rs773274876 0.00001
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129 0.00001
NM_000642.3(AGL):c.2001+3T>G rs1392738838 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys) rs756760991 0.00001
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys) rs780205320 0.00001
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr) rs776037609 0.00001
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile) rs1652034728 0.00001
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser) rs145720433 0.00001
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902 0.00001
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2905T>C (p.Tyr969His) rs1336583652 0.00001
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356 0.00001
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys) rs749163043 0.00001
NM_000642.3(AGL):c.367C>G (p.Pro123Ala) rs372709840 0.00001
NM_000642.3(AGL):c.3836+4G>A rs1488570554 0.00001
NM_000642.3(AGL):c.413G>A (p.Gly138Glu) rs773384152 0.00001
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val) rs752877022 0.00001
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) rs772026557 0.00001
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser) rs766592371 0.00001
NM_000642.3(AGL):c.4379G>A (p.Arg1460His) rs546855663 0.00001
NM_000642.3(AGL):c.818C>G (p.Ala273Gly) rs943273443 0.00001
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646 0.00001
NM_000642.3(AGL):c.996C>A (p.His332Gln) rs780811320 0.00001
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly) rs1216156102
NM_000642.3(AGL):c.1054A>G (p.Ile352Val) rs1651360894
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro) rs750705888
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu) rs928357712
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly) rs1045745115
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln) rs758882822
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr) rs149771710
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) rs146493448
NM_000642.3(AGL):c.1459T>C (p.Trp487Arg) rs1557760604
NM_000642.3(AGL):c.1735+5G>A
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr) rs1317587334
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) rs781127120
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu) rs2100760670
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg) rs1010866326
NM_000642.3(AGL):c.2896A>T (p.Met966Leu) rs772843306
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu) rs147977213
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu) rs569268763
NM_000642.3(AGL):c.3347G>A (p.Arg1116His) rs746779518
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu) rs775498547
NM_000642.3(AGL):c.3639G>C (p.Gln1213His) rs1213904866
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg) rs749118487
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val) rs765807203
NM_000642.3(AGL):c.3927T>A (p.His1309Gln) rs1200885928
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly) rs757161555
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met) rs897156043
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
NM_000642.3(AGL):c.573G>C (p.Lys191Asn) rs781491884
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.895T>G (p.Trp299Gly) rs773101055
NM_000642.3(AGL):c.922A>G (p.Lys308Glu) rs2101113540
NM_000642.3(AGL):c.974C>G (p.Thr325Ser) rs2101126080

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