ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy 94 by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.1570dup (p.Ser524fs) rs2505480134
NM_001271.4(CHD2):c.1898dup (p.Ile634fs) rs2505488406
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu) rs2141843225

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