ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 4 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)	rs1085307900
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)	rs587784453

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