ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_003688.3(CASK):c.2546T>C (p.Val849Ala) rs1569283243
NM_004484.3(GPC3):c.1692del (p.Leu565fs) rs886039908

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