ClinVar Miner

List of variants in gene G6PC1 studied for Glycogen storage disease, type I

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000151.4(G6PC1):c.*2311C>T rs372226654 0.00006
NM_000151.4(G6PC1):c.*1313A>G rs886052962 0.00005
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] rs397717945
NM_000151.4(G6PC1):c.*2687del rs113390675
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479

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