ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal dominant 45 by Tan Lab, Dept of Cell Biology, University of Alberta

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001386298.1(CIC):c.1100dup (p.Pro368fs) rs2147014804
NM_001386298.1(CIC):c.3400C>T (p.Gln1134Ter) rs1282986679
NM_001386298.1(CIC):c.3410G>A (p.Arg1137Gln) rs2147198843
NM_001386298.1(CIC):c.6166_6167del (p.Ala2056fs) rs2147313207

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