ClinVar Miner

List of variants in gene KDM5C reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.1122+1G>A rs2146933945
NM_004187.5(KDM5C):c.149_150dup (p.Asp51fs) rs2073994786
NM_004187.5(KDM5C):c.150+1G>T rs2073994731
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.782-1G>T rs2146940260

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