List of variants in gene GAD1 reported as pathogenic for developmental and epileptic encephalopathy

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000817.3(GAD1):c.1119+1G>A	rs2105801986
NM_000817.3(GAD1):c.1414-1G>C	rs1702866781
NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys)	rs1381723796
NM_000817.3(GAD1):c.1591C>T (p.Arg531Ter)	rs745595462
NM_000817.3(GAD1):c.1691A>G (p.Asn564Ser)	rs1161418050
NM_000817.3(GAD1):c.639-1445del	rs2105795792
NM_000817.3(GAD1):c.692AGA[1] (p.Lys232del)	rs1702579715
NM_000817.3(GAD1):c.812_816del (p.Val271fs)	rs1702611329
NM_000817.3(GAD1):c.87C>G (p.Tyr29Ter)	rs774772554

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