List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 4 by Baylor Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
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.170-2A>G	rs1554776674
NM_001032221.6(STXBP1):c.578+1G>A	rs796053357
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)	rs1564346538

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