ClinVar Miner

List of variants in gene CASK reported as uncertain significance for Inborn genetic diseases

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly) rs759161435 0.00005
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578 0.00005
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) rs755594972 0.00004
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1432G>A (p.Gly478Arg) rs771717545 0.00001
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly) rs1409442804 0.00001
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) rs900079494 0.00001
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr) rs2065150683 0.00001
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) rs1168108458 0.00001
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp) rs373953251 0.00001
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) rs751235198 0.00001
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) rs1361659361 0.00001
NM_001367721.1(CASK):c.1400A>G (p.Tyr467Cys)
NM_001367721.1(CASK):c.1556T>C (p.Met519Thr) rs1555983784
NM_001367721.1(CASK):c.1568T>C (p.Met523Thr)
NM_001367721.1(CASK):c.1583G>C (p.Gly528Ala)
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp) rs2519751648
NM_001367721.1(CASK):c.2150A>G (p.Asn717Ser)
NM_001367721.1(CASK):c.2300T>G (p.Phe767Cys)
NM_001367721.1(CASK):c.2301T>G (p.Phe767Leu)
NM_001367721.1(CASK):c.2375C>G (p.Ser792Cys) rs2064797874
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile) rs2519663449
NM_001367721.1(CASK):c.2691T>G (p.Asn897Lys) rs2519651965
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu) rs2068673777
NM_001367721.1(CASK):c.62G>A (p.Gly21Asp) rs2071299462
NM_001367721.1(CASK):c.661G>A (p.Gly221Arg) rs1256169792
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp) rs1556013344
NM_001367721.1(CASK):c.838G>T (p.Asp280Tyr) rs1216651413
NM_001367721.1(CASK):c.901A>G (p.Arg301Gly) rs2519079317
NM_001367721.1(CASK):c.92A>G (p.Asn31Ser) rs2519892738

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