ClinVar Miner

List of variants reported as pathogenic for Obesity; Global developmental delay; Seizure; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Increased overbite by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

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Total variants: 1
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HGVS dbSNP gnomAD frequency
46;XX;t(2;10)(q22;22.3)dn

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