List of variants in gene STXBP1 reported as pathogenic for Epileptic encephalopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.127681712_127692172del
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	rs796053366
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.1249+1G>A	rs1057519189
NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter)	rs1057519539
NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter)	rs1057519537
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)	rs1057519538

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