ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 27 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala) rs2136406174
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)

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