ClinVar Miner

List of variants in gene GABRB3 reported as pathogenic for Epileptic encephalopathy, early infantile, 43

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Total variants: 4
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HGVS dbSNP
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941

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