ClinVar Miner

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

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Total variants: 41
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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.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
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.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.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)
NM_000151.4(G6PC1):c.324del (p.Cys109fs)
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
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.388_389delinsTA (p.Met130Ter)
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.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142

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