List of variants in gene PGK1 reported as likely benign for disorder of glycogen metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000291.4(PGK1):c.909G>C (p.Val303=)	rs142525614	0.00089
NM_000291.4(PGK1):c.390G>A (p.Gly130=)	rs146350576	0.00085
NM_000291.4(PGK1):c.642-20A>C	rs201622343	0.00026
NM_000291.4(PGK1):c.937-8C>T	rs367749559	0.00010
NM_000291.4(PGK1):c.129T>C (p.Ala43=)	rs781822299	0.00008
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)	rs782668224	0.00007
NM_000291.4(PGK1):c.116+8C>T	rs369581587	0.00004
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)	rs782084984	0.00002
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)	rs781839243	0.00002
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
NM_000291.4(PGK1):c.417+13A>T
NM_000291.4(PGK1):c.937-17dup	rs782576397

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