ClinVar Miner

List of variants in gene CASK studied for Intellectual disability

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val) rs2066303451
NM_001367721.1(CASK):c.1501A>G (p.Met501Val) rs2065513776
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val) rs2064797651
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu) rs2147495667
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg) rs2067197219
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.875_877del (p.Val292del) rs2066559023

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