ClinVar Miner

List of variants in gene CASK reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_003688.3(CASK):c.2155+1G>C rs1555977199
NM_003688.3(CASK):c.2156-16G>A rs1569291261
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) rs1569288603
NM_003688.3(CASK):c.2546T>C (p.Val849Ala) rs1569283243
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369

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