ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Invitae

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Total variants: 139
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HGVS dbSNP
NC_000017.10:g.(?_41055938)_(41063453_?)del
NC_000017.10:g.(?_41059530)_(41059655_?)del
NC_000017.11:g.(?_42900800)_(42904229_?)del
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=)
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=)
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=)
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.144C>T (p.Pro48=)
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.160_224dup (p.Lys76_Trp77insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
NM_000151.4(G6PC1):c.219C>A (p.Leu73=)
NM_000151.4(G6PC1):c.219C>T (p.Leu73=)
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)
NM_000151.4(G6PC1):c.225T>C (p.Phe75=)
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.231-5C>T
NM_000151.4(G6PC1):c.246G>A (p.Gln82=)
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC1):c.252A>G (p.Pro84=)
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=)
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.285C>T (p.Ser95=)
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) rs777452219
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC1):c.324del (p.Cys109fs)
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.340+7G>T
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=)
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter)
NM_000151.4(G6PC1):c.405T>C (p.Leu135=)
NM_000151.4(G6PC1):c.42G>A (p.Gln14=)
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.435C>G (p.Thr145=)
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.446+7A>C
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.453G>A (p.Leu151=)
NM_000151.4(G6PC1):c.456T>C (p.Asn152=)
NM_000151.4(G6PC1):c.45A>G (p.Ser15=)
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) rs775826449
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.562+7G>A
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.563-5C>T rs1246163955
NM_000151.4(G6PC1):c.563-6A>G
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) rs753671536
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.657C>T (p.Phe219=)
NM_000151.4(G6PC1):c.663C>T (p.Ile221=)
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.699C>T (p.Asp233=)
NM_000151.4(G6PC1):c.702C>G (p.Leu234=)
NM_000151.4(G6PC1):c.705G>A (p.Leu235=)
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
NM_000151.4(G6PC1):c.801G>A (p.Thr267=)
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
NM_000151.4(G6PC1):c.870G>A (p.Lys290=)
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469
NM_000151.4(G6PC1):c.930C>T (p.Asp310=)
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.999G>A (p.Val333=)

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