ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 19

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Total variants: 3
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HGVS dbSNP
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553

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