ClinVar Miner

List of variants in gene GABRA1 reported as pathogenic for Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4

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Total variants: 5
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HGVS dbSNP
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354

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