ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic by Invitae

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ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His) rs754607405 0.00035
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu) rs200746350 0.00017
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136 0.00014
NM_000158.4(GBE1):c.429+5T>G rs373240805 0.00014
NM_000158.4(GBE1):c.2036G>A (p.Arg679His) rs758188572 0.00010
NM_000158.4(GBE1):c.584G>A (p.Arg195Gln) rs368555635 0.00010
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000158.4(GBE1):c.467G>A (p.Arg156His) rs374404487 0.00007
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254 0.00006
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536 0.00006
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys) rs571116428 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000158.4(GBE1):c.1270A>G (p.Ile424Val) rs773950053 0.00004
NM_000158.4(GBE1):c.1672G>A (p.Glu558Lys) rs765212625 0.00004
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.626A>G (p.His209Arg) rs542346749 0.00004
NM_000158.4(GBE1):c.143+6G>A rs371048718 0.00003
NM_000158.4(GBE1):c.153G>C (p.Gln51His) rs760281369 0.00003
NM_000158.4(GBE1):c.20C>T (p.Pro7Leu) rs765422566 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys) rs774709930 0.00003
NM_000158.4(GBE1):c.583C>T (p.Arg195Trp) rs371086146 0.00003
NM_000158.4(GBE1):c.1222A>G (p.Ile408Val) rs760095778 0.00002
NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys) rs183019204 0.00002
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900 0.00002
NM_000158.4(GBE1):c.1888A>G (p.Ser630Gly) rs758683393 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.535G>A (p.Asp179Asn) rs758425725 0.00002
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met) rs751619568 0.00001
NM_000158.4(GBE1):c.1618+4A>G rs763962659 0.00001
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.169A>G (p.Lys57Glu) rs772910188 0.00001
NM_000158.4(GBE1):c.1810G>A (p.Val604Met) rs760015364 0.00001
NM_000158.4(GBE1):c.200A>G (p.Asp67Gly) rs368256869 0.00001
NM_000158.4(GBE1):c.2080A>G (p.Ile694Val) rs1257283055 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.2093T>C (p.Val698Ala) rs1195429833 0.00001
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly) rs1400238963 0.00001
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser) rs755590449 0.00001
NM_000158.4(GBE1):c.287A>G (p.Glu96Gly) rs1705760375 0.00001
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys) rs763302311 0.00001
NM_000158.4(GBE1):c.488A>G (p.Tyr163Cys) rs771447249 0.00001
NM_000158.4(GBE1):c.548C>T (p.Ser183Leu) rs1327623597 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.88A>G (p.Arg30Gly) rs1236771685 0.00001
NC_000003.11:g.(?_81539558)_(81754784_?)dup
NC_000003.11:g.(?_81539558)_(81810668_?)dup
NC_000003.11:g.(?_81548251)_(81548388_?)dup
NC_000003.11:g.(?_81691912)_(81810668_?)dup
NM_000158.4(GBE1):c.1027A>G (p.Arg343Gly)
NM_000158.4(GBE1):c.1031G>T (p.Trp344Leu) rs773381709
NM_000158.4(GBE1):c.1048C>T (p.Arg350Cys)
NM_000158.4(GBE1):c.107C>A (p.Pro36Gln)
NM_000158.4(GBE1):c.1088T>C (p.Leu363Pro) rs965176553
NM_000158.4(GBE1):c.1109G>A (p.Gly370Asp)
NM_000158.4(GBE1):c.1112A>G (p.Gln371Arg)
NM_000158.4(GBE1):c.1144G>A (p.Gly382Arg)
NM_000158.4(GBE1):c.1148T>A (p.Leu383Gln) rs777291512
NM_000158.4(GBE1):c.1148T>C (p.Leu383Pro)
NM_000158.4(GBE1):c.1183T>G (p.Leu395Val) rs1269189934
NM_000158.4(GBE1):c.1202A>G (p.His401Arg)
NM_000158.4(GBE1):c.1264T>A (p.Ser422Thr) rs2106945255
NM_000158.4(GBE1):c.1283G>A (p.Gly428Glu)
NM_000158.4(GBE1):c.1285G>A (p.Gly429Ser)
NM_000158.4(GBE1):c.1309A>G (p.Met437Val) rs1288041902
NM_000158.4(GBE1):c.1315A>G (p.Ile439Val) rs1357214851
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly) rs1703799830
NM_000158.4(GBE1):c.1335+3A>C
NM_000158.4(GBE1):c.1368C>G (p.Asn456Lys) rs2106938616
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn) rs752100789
NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser) rs776526697
NM_000158.4(GBE1):c.1403G>A (p.Arg468His)
NM_000158.4(GBE1):c.1466C>T (p.Ser489Leu)
NM_000158.4(GBE1):c.146A>G (p.Tyr49Cys)
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr) rs772670028
NM_000158.4(GBE1):c.1528A>T (p.Thr510Ser) rs751466558
NM_000158.4(GBE1):c.1534G>C (p.Val512Leu)
NM_000158.4(GBE1):c.1563A>C (p.Lys521Asn)
NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp) rs2106933633
NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)
NM_000158.4(GBE1):c.1615A>T (p.Met539Leu)
NM_000158.4(GBE1):c.1618+3_1618+6del
NM_000158.4(GBE1):c.1619-3C>T
NM_000158.4(GBE1):c.162A>C (p.Gln54His)
NM_000158.4(GBE1):c.1666A>G (p.Asn556Asp)
NM_000158.4(GBE1):c.1712A>T (p.Asp571Val)
NM_000158.4(GBE1):c.1720C>T (p.Leu574Phe) rs2106872197
NM_000158.4(GBE1):c.1727G>A (p.Arg576His)
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
NM_000158.4(GBE1):c.1771G>A (p.Glu591Lys)
NM_000158.4(GBE1):c.1803+5G>T
NM_000158.4(GBE1):c.1804-6T>G rs753097564
NM_000158.4(GBE1):c.1814G>A (p.Ser605Asn)
NM_000158.4(GBE1):c.1831A>C (p.Asn611His) rs2106869674
NM_000158.4(GBE1):c.1844C>A (p.Ala615Asp)
NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)
NM_000158.4(GBE1):c.1910G>A (p.Arg637Gln)
NM_000158.4(GBE1):c.193G>A (p.Gly65Ser)
NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)
NM_000158.4(GBE1):c.19C>T (p.Pro7Ser) rs1401990930
NM_000158.4(GBE1):c.1_18dup (p.Thr6_Pro7insMetAlaAlaProMetThr)
NM_000158.4(GBE1):c.2010T>G (p.Phe670Leu) rs2106809858
NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)
NM_000158.4(GBE1):c.227T>C (p.Phe76Ser) rs1267044758
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
NM_000158.4(GBE1):c.22G>T (p.Ala8Ser) rs1297879927
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
NM_000158.4(GBE1):c.259T>C (p.Tyr87His) rs1705760813
NM_000158.4(GBE1):c.283G>A (p.Ala95Thr)
NM_000158.4(GBE1):c.289G>A (p.Gly97Arg)
NM_000158.4(GBE1):c.343A>G (p.Lys115Glu) rs1705180182
NM_000158.4(GBE1):c.3G>C (p.Met1Ile)
NM_000158.4(GBE1):c.406G>A (p.Val136Met)
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
NM_000158.4(GBE1):c.451G>A (p.Gly151Arg)
NM_000158.4(GBE1):c.497G>A (p.Arg166His)
NM_000158.4(GBE1):c.521A>T (p.Asp174Val)
NM_000158.4(GBE1):c.526A>T (p.Ile176Leu)
NM_000158.4(GBE1):c.534G>C (p.Trp178Cys)
NM_000158.4(GBE1):c.56A>G (p.Asn19Ser)
NM_000158.4(GBE1):c.574A>C (p.Lys192Gln)
NM_000158.4(GBE1):c.599A>G (p.Tyr200Cys)
NM_000158.4(GBE1):c.610G>T (p.Val204Leu) rs2107072252
NM_000158.4(GBE1):c.640G>T (p.Ala214Ser)
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) rs1350258947
NM_000158.4(GBE1):c.697A>G (p.Asn233Asp)
NM_000158.4(GBE1):c.713T>C (p.Met238Thr)
NM_000158.4(GBE1):c.718A>G (p.Ile240Val) rs868766244
NM_000158.4(GBE1):c.733T>C (p.Tyr245His) rs2107066005
NM_000158.4(GBE1):c.748G>T (p.Gly250Cys)
NM_000158.4(GBE1):c.757A>G (p.Ile253Val) rs2107065942
NM_000158.4(GBE1):c.793A>G (p.Thr265Ala)
NM_000158.4(GBE1):c.808C>A (p.Gln270Lys)
NM_000158.4(GBE1):c.809A>T (p.Gln270Leu)
NM_000158.4(GBE1):c.826G>C (p.Ala276Pro) rs2107059765
NM_000158.4(GBE1):c.841A>T (p.Ile281Phe) rs2107059729
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000158.4(GBE1):c.919G>C (p.Asp307His)
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu) rs1253319926
NM_000158.4(GBE1):c.981T>A (p.Phe327Leu)

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