ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 27 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667

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