ClinVar Miner

List of variants reported as pathogenic for Autistic disorder of childhood onset; Macroglossia; Global developmental delay; Seizures; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

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Total variants: 1
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HGVS dbSNP
NM_000110.3(DPYD):c.1905+1G>A rs3918290

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