ClinVar Miner

List of variants reported as uncertain significance for Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	rs1356639316	0.00001

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