ClinVar Miner

List of variants in gene CASK studied for Inborn genetic diseases

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) rs41431245 0.00591
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) rs141790702 0.00424
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) rs199730401 0.00013
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) rs141158465 0.00013
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) rs757563548 0.00009
NM_001367721.1(CASK):c.2670C>T (p.Phe890=) rs773214246 0.00006
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578 0.00005
NM_001367721.1(CASK):c.195C>T (p.Ile65=) rs769320891 0.00005
NM_001367721.1(CASK):c.582G>A (p.Glu194=) rs774107615 0.00005
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) rs138646715 0.00003
NM_001367721.1(CASK):c.2508C>T (p.Asp836=) rs375734729 0.00003
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) rs755594972 0.00003
NM_001367721.1(CASK):c.2511G>C (p.Val837=) rs1434791938 0.00002
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly) rs1409442804 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) rs900079494 0.00001
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) rs1168108458 0.00001
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) rs546044640 0.00001
NM_001367721.1(CASK):c.2486A>G (p.Gln829Arg) rs759736132 0.00001
NM_001367721.1(CASK):c.661G>A (p.Gly221Arg) rs1256169792 0.00001
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) rs1361659361 0.00001
NM_001367721.1(CASK):c.1015+1G>C rs1569350501
NM_001367721.1(CASK):c.1236A>G (p.Val412=)
NM_001367721.1(CASK):c.1556T>C (p.Met519Thr) rs1555983784
NM_001367721.1(CASK):c.1650A>G (p.Glu550=)
NM_001367721.1(CASK):c.1680G>A (p.Arg560=)
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp)
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter) rs1555977248
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile)
NM_001367721.1(CASK):c.2781G>A (p.Ter927=)
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu) rs2068673777
NM_001367721.1(CASK):c.372G>A (p.Gln124=) rs1162518702
NM_001367721.1(CASK):c.546A>T (p.Thr182=) rs1569380048
NM_001367721.1(CASK):c.612G>T (p.Gly204=) rs761992730
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp) rs1556013344
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.838G>T (p.Asp280Tyr)
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter) rs1556004104
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001367721.1(CASK):c.92A>G (p.Asn31Ser)

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