ClinVar Miner

List of variants in gene G6PC1 reported as pathogenic for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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Gene type:
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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp) rs759982943 0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00002
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu) rs768803329 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val) rs774212157 0.00002
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) rs775826449 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NC_000017.10:g.(?_41052894)_(41056246_?)del
NC_000017.10:g.(?_41052894)_(41059665_?)del
NC_000017.10:g.(?_41052894)_(41063443_?)del
NC_000017.10:g.(?_41055928)_(41056246_?)del
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.1004del (p.Leu335fs)
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1018_1026del (p.Val340_Pro342del) rs1200748845
NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer) rs2151929143
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg) rs1567702819
NM_000151.4(G6PC1):c.208del (p.Trp70fs) rs2056023141
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) rs2056023296
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.230+1G>T
NM_000151.4(G6PC1):c.230+4A>G rs587776757
NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.267_268delinsC (p.Leu89fs)
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)
NM_000151.4(G6PC1):c.302del (p.Leu101fs) rs2151930031
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) rs2056043532
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC1):c.324del (p.Cys109fs) rs2151930039
NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)
NM_000151.4(G6PC1):c.341-7_356del
NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser) rs761007323
NM_000151.4(G6PC1):c.355C>G (p.His119Asp) rs1332616844
NM_000151.4(G6PC1):c.356A>T (p.His119Leu) rs1401928680
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) rs764401169
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter) rs2056069710
NM_000151.4(G6PC1):c.388_400del (p.Met130fs) rs1567705064
NM_000151.4(G6PC1):c.403_404del (p.Leu135fs) rs2151931178
NM_000151.4(G6PC1):c.450del (p.Cys150_Leu151insTer) rs2151931733
NM_000151.4(G6PC1):c.462_466del (p.Ile154fs)
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter) rs2056081389
NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC1):c.503_506dup (p.Arg170fs) rs2151931748
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.549dup (p.Gly184fs) rs2151931799
NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter) rs1414234636
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter) rs2056082144
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) rs104894569
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs) rs2151932243
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) rs2056091436
NM_000151.4(G6PC1):c.662dup (p.Gly222fs)
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) rs1410392732
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter) rs2151932291
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter) rs2151929089
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)
NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter) rs140869027
NM_000151.4(G6PC1):c.788del (p.Lys263fs)
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.826_830del (p.Asn276fs)
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
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.980_982del (p.Phe327del) rs80356486

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