ClinVar Miner

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

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Total variants: 14
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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.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.230+4A>G rs587776757
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
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.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) rs104894569
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.883C>T (p.Arg295Cys) rs104894563

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