ClinVar Miner

List of variants studied for cystic malformation of the posterior fossa by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (8):

Dandy-Walker syndrome
Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity
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
Dandy-Walker syndrome; Global developmental delay; Hydrocephalus; Cerebellar vermis hypoplasia
Dandy-Walker syndrome; Global developmental delay; Hypoplasia of the corpus callosum; Cerebellar atrophy; Attention deficit hyperactivity disorder; Hypotonia
Dandy-Walker syndrome; Kabuki syndrome 1
Global developmental delay; Enlarged cisterna magna
Pulmonary arterial hypertension; Bilateral cryptorchidism; Rib fusion; Horseshoe kidney; Macrocephaly; Abnormality of neuronal migration; Enlarged cisterna magna; Hypoplasia of penis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	rs1356639316	0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	rs771409809	0.00001
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623

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