ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
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.150_151del (p.Trp50fs) rs1057516674
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.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.340+20C>T rs183285298
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC1):c.447-1G>A rs1411037881
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
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.606T>C (p.Tyr202=) rs1555560103
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.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486

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