ClinVar Miner

List of variants in gene CASK reported as uncertain significance for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val) rs2066303451
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.1501A>G (p.Met501Val) rs2065513776
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile) rs2147155700
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val) rs2064797651
NM_001367721.1(CASK):c.2530G>T (p.Val844Phe) rs2147067804
NM_001367721.1(CASK):c.533-5T>G rs2147479605
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) rs2072812741
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.709-3C>T rs2067016459
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)

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