ClinVar Miner

List of variants in gene CASK reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578 0.00005
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) rs138646715 0.00003
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) rs755594972 0.00003
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.1717A>T (p.Thr573Ser) rs900079494 0.00001
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) rs1168108458 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.1556T>C (p.Met519Thr) rs1555983784
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp)
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile)
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu) rs2068673777
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp) rs1556013344
NM_001367721.1(CASK):c.838G>T (p.Asp280Tyr)
NM_001367721.1(CASK):c.92A>G (p.Asn31Ser)

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