List of variants reported as pathogenic for Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000808.4(GABRA3):c.497C>T (p.Thr166Met)	rs1193521522	0.00001
NC_000023.11:g.152277607_152451201dup
NM_000808.4(GABRA3):c.1421A>G (p.Tyr474Cys)	rs1936960785
NM_000808.4(GABRA3):c.725A>T (p.Gln242Leu)	rs2521621423

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