List of variants in gene GLUD1 reported as pathogenic for carbohydrate metabolism disease

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala)	rs121909735
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)	rs121909731
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)	rs121909733
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)	rs121909734
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)	rs121909734
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)	rs121909732
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)	rs2133777379
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)	rs121909730
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)	rs56275071
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)	rs121909736
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)	rs121909737

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