ClinVar Miner

List of variants reported as pathogenic for Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Malar flattening; Narrow mouth; Agitation; Nephrolithiasis; Reduced eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizure; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III 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;5)(q24;q13)dn

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