ClinVar Miner

List of variants reported as likely pathogenic for Epicanthus; Global developmental delay; Seizure; Eczematoid dermatitis; Abnormal facial shape; Speech apraxia; Wide mouth; Wide nasal bridge; Long eyelashes; Abnormality of the musculature; Hyperactive patellar reflex; Autoimmune hypoparathyroidism 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;X;t(X;12)(p11.2;q24.33)dn

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