List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 4 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)	rs2132444703
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	rs796053361

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