ClinVar Miner

List of variants in gene CHD2 reported as likely pathogenic for Epileptic encephalopathy, childhood-onset

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Total variants: 9
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HGVS dbSNP
NM_001271.4(CHD2):c.1720-155_1727delinsT
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly) rs1567149962
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser) rs781717447
NM_001271.4(CHD2):c.692+1G>C rs1555439036

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