ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 27 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)	rs886041295
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser)	rs1591638805
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr)	rs1948652117

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