ClinVar Miner

List of variants reported as pathogenic for Brachydactyly type B1; Developmental cataract; Teeth, fused; Seizure; Posteriorly rotated ears; Delayed speech and language development; Downslanted palpebral fissures; Open mouth; Strabismus; Sparse and thin eyebrow; Toe clinodactyly; Drooling; Abnormality of temperature regulation; Prominent metopic ridge; Impaired pain sensation; Generalized neonatal hypotonia; Inflammatory abnormality of the skin; Midface retrusion; Chronic constipation; Patent ductus arteriosus 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;ins(2;9)(q24.3;p22.1p24.3)dn

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