List of variants studied for Developmental and epileptic encephalopathy, 4 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	rs121918321
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg)	rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)	rs1219725395
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)	rs121918317
NM_001032221.6(STXBP1):c.169+1G>A	rs587776641
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)	rs121918320
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr)	rs121918318
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310

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