ClinVar Miner

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

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Total variants: 8
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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.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter) rs2151929089
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733

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