ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 4 by Pediatric Department, Xiangya Hospital, Central South University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)	rs796053381
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)	rs2131522449
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs)	rs2131528405

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