List of variants in gene PGK1 reported as pathogenic 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)	rs137852534	0.00001
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)	rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)	rs137852536
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro)	rs137852531
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro)	rs1557247556
NM_000291.4(PGK1):c.473G>T (p.Gly158Val)	rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val)	rs137852538
NM_000291.4(PGK1):c.571AAG[1] (p.Lys192del)	rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro)	rs137852529
NM_000291.4(PGK1):c.756+5G>A	rs431905503
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met)	rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn)	rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val)	rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg)	rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn)	rs137852537

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