ClinVar Miner

List of variants in gene KDM5C reported as pathogenic for Intellectual disability

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.1296dup (p.Glu433Ter) rs878853151
NM_004187.5(KDM5C):c.1464C>A (p.Cys488Ter) rs2073534632
NM_004187.5(KDM5C):c.2152G>C (p.Ala718Pro) rs878853141
NM_004187.5(KDM5C):c.2381_2382del (p.Leu794fs) rs2073044253

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