ClinVar Miner

List of intergenic variants reported as pathogenic for Type B brachydactyly; Congenital cataract; Fused teeth; Seizures; 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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn

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