ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, childhood-onset by Invitae

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Total variants: 6
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NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
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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