ClinVar Miner

List of variants in gene GABRA1 reported as pathogenic for Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308

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