ClinVar Miner

List of variants studied for Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998

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