ClinVar Miner

List of variants in gene KIF1A studied for Dandy-Walker syndrome; Laryngomalacia; Sensorineural hearing loss; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Nyctalopia; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Duane anomaly; Small hand; Cleft palate

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr)

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