List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 76 by Houlden Lab, UCL Institute of Neurology

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)	rs755138493
NM_016188.5(ACTL6B):c.1114-1G>A	rs1562847909
NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)	rs1373783639
NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)	rs2486170751
NM_016188.5(ACTL6B):c.628del (p.Met210fs)	rs2486160760
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)	rs779550102
NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)	rs755552228
NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)	rs2486158174

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