ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy 94 by MVZ Medizinische Genetik Mainz

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2426G>T (p.Arg809Leu) rs2505528009
NM_001271.4(CHD2):c.2596T>C (p.Ser866Pro) rs2505543157
NM_001271.4(CHD2):c.2636C>G (p.Ala879Gly)

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