ClinVar Miner

List of variants in gene GABRA1 reported as uncertain significance for Juvenile myoclonic epilepsy

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Total variants: 6
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HGVS dbSNP
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-117_-112GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.-4C>T rs375475234
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) rs886060361

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