ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593

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