ClinVar Miner

List of intergenic variants reported as likely pathogenic for Pectus excavatum; High palate; Absent speech; Partial agenesis of the corpus callosum; Microcephaly; Inability to walk; Shortening of all distal phalanges of the fingers; Lower limb hypertonia; Hypoplasia of the frontal lobes; Hypoplasia of the premaxilla; Intellectual disability, severe; Upper limb hypertonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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