ClinVar Miner

List of variants in gene GRIN2B reported as pathogenic for Epileptic encephalopathy, early infantile, 27

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Total variants: 4
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HGVS dbSNP
NM_000834.4(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.4(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.4(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_000834.4(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669

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