ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Invitae

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Total variants: 12
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HGVS dbSNP
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564

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