List of variants reported as pathogenic for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by OMIM

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)	rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe)	rs886037939
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter)	rs1555368345
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys)	rs886037940
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)	rs1595440448
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr)	rs886037941
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)	rs398123000
NM_001271.4(CHD2):c.1809+1del	rs397514739
NM_001271.4(CHD2):c.1810-2A>C	rs398122999
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)	rs397514740
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)	rs398122998
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter)	rs1567133726
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro)	rs749240316
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	rs794726859
NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs)	rs876657401
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	rs794726860
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	rs876657400
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)	rs587777862
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro)	rs587777860
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn)	rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe)	rs1554774401

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