ClinVar Miner

List of variants in gene CASK reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) rs41431245 0.00591
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
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.356+6T>C rs200402760 0.00022
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945 0.00002
NM_001367721.1(CASK):c.1098G>T (p.Lys366Asn) rs1205947875 0.00001
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.159G>T (p.Gly53=) rs761946846 0.00001
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) rs546044640 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.1504-6dup rs749321162
NM_001367721.1(CASK):c.344A>T (p.Glu115Val) rs886043662
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser) rs886043863
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992

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