List of variants reported as pathogenic for developmental and epileptic encephalopathy, 46 by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)	rs1569064110
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)	rs886040861
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile)	rs1569065861
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg)	rs1569065866

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