ClinVar Miner

List of variants reported for Epicanthus; Global developmental delay; Cerebral palsy; Seizure; EEG abnormality; Abnormal facial shape; Depressed nasal bridge; Short philtrum; Impaired social interactions; Myoclonus; Abnormal cerebral white matter morphology; Medial flaring of the eyebrow; Tip-toe gait; Hypotonia by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
46;XX;t(1;5)(p31;q33)dn

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