ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Myriad Genetics, Inc.

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Total variants: 11
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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.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.211del (p.Leu71fs) rs2544206686
NM_000151.4(G6PC1):c.278del (p.Tyr93fs) rs2544208884
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479

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