List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 43 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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.580C>T (p.Arg194Ter)	rs1555368345
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys)	rs886037940
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)	rs1595440448
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr)	rs886037941

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