ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 by New York Genome Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu) rs754878801 0.00001
NM_000834.5(GRIN2B):c.1126-3C>T rs1555112424
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn) rs202133231

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