ClinVar Miner

List of variants reported as benign for Developmental and epileptic encephalopathy 94 by Genome-Nilou Lab

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001271.4(CHD2):c.4414-45C>T rs12915582 0.75991
NM_001271.4(CHD2):c.2727+38T>G rs11074122 0.75511
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_001271.4(CHD2):c.2728-53G>A rs2272461 0.62681
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) rs12906163 0.28315
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=) rs2272457 0.23362
NM_001271.4(CHD2):c.4692+43A>G rs2119010 0.18154
NM_001271.4(CHD2):c.5154-74C>T rs12905033 0.17307
NM_001271.4(CHD2):c.5154-75C>T rs12905032 0.17303

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