ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 66 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.58G>A (p.Val20Met) rs2058502984 0.00001
NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401

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