ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal dominant 56 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro) rs1555607159
NM_004859.4(CLTC):c.4575dup (p.Glu1526fs) rs1555607621
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004859.4(CLTC):c.977_980del (p.Ser326fs) rs1555604778

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