List of variants in gene G6PC1 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	rs80356487	0.00026
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	rs80356482	0.00003
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	rs780226142

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