ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)

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