List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 27

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)	rs774592932	0.00001
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)	rs886041295
NM_000834.5(GRIN2B):c.1577del (p.Ser526fs)
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly)
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn)	rs1949369220
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser)	rs1591638805
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile)	rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly)	rs672601376
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter)	rs1135401799
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro)	rs869312669
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)	rs1948653017
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr)	rs1948652117
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter)	rs879253931

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