ClinVar Miner

List of variants in gene CHD2 reported as likely pathogenic for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly) rs1567149962
NM_001271.4(CHD2):c.2809C>G (p.His937Asp)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly)
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)
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.692+1G>C rs1555439036

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