List of variants reported as pathogenic for disorder of glycolysis by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)	rs201255024	0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	rs779184183	0.00001
NM_000162.5(GCK):c.214G>C (p.Gly72Arg)	rs193922289
NM_000162.5(GCK):c.629T>A (p.Met210Lys)	rs80356654
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	rs769268803
NM_000545.8(HNF1A):c.1541dup (p.His514fs)	rs1877293842

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