ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 4 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.478del (p.His160fs)

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