ClinVar Miner

List of variants in gene GABRA1 studied for Juvenile myoclonic epilepsy

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Total variants: 8
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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
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163

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