ClinVar Miner

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

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Total variants: 8
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NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.888C>G (p.Leu296=) rs1266860369
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218

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