ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847

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