ClinVar Miner

List of variants in gene CASK reported as likely pathogenic for central nervous system malformation

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
NM_001367721.1(CASK):c.1582+1G>A rs2147179060
NM_001367721.1(CASK):c.1583-1G>T
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001367721.1(CASK):c.2155+1G>C rs1555977199
NM_001367721.1(CASK):c.2155G>A (p.Val719Met) rs12842195
NM_001367721.1(CASK):c.2156-1G>A rs1569291261
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs) rs1569288603
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) rs1569283243
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
NM_001367721.1(CASK):c.356+1G>T rs2147736023
NM_001367721.1(CASK):c.359A>G (p.His120Arg) rs1602550687
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter) rs2147495562
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter) rs2067016221
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001367721.1(CASK):c.915+1G>A rs2147368049

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