ClinVar Miner

List of variants in gene CASK reported as likely pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp11.4(chrX:41690431-42036102)x2
NM_001367721.1(CASK):c.1033+1G>A rs1556000257
NM_001367721.1(CASK):c.1155+1G>T
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile) rs2147201250
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.1565dup (p.Met523fs)
NM_001367721.1(CASK):c.1582G>A (p.Gly528Ser) rs1057517923
NM_001367721.1(CASK):c.1586C>A (p.Thr529Lys) rs755515289
NM_001367721.1(CASK):c.173-1G>T rs2147833223
NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr) rs2065129571
NM_001367721.1(CASK):c.2018C>T (p.Pro673Leu) rs1057523820
NM_001367721.1(CASK):c.2425G>A (p.Gly809Ser) rs1064796884
NM_001367721.1(CASK):c.2521-6A>G
NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter) rs1021128001
NM_001367721.1(CASK):c.437G>A (p.Cys146Tyr) rs2067197487
NM_001367721.1(CASK):c.493G>C (p.Val165Leu) rs1057521754
NM_001367721.1(CASK):c.496G>C (p.Ala166Pro) rs1556016347
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817

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