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

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.340+10C>A	rs368450665	0.00115
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	rs149486847	0.00019
NM_000151.4(G6PC1):c.*2311C>T	rs372226654	0.00018
NM_000151.4(G6PC1):c.*1313A>G	rs886052962	0.00005
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	rs80356482	0.00003
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.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.79del (p.Gln27fs)	rs80356479

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