ClinVar Miner

List of variants in gene CHN1 studied for Duane syndrome type 1

Included ClinVar conditions (6):

Cryptorchidism; Duane retraction syndrome; Atrial septal defect; Global developmental delay; Abnormal cardiovascular system morphology; Scoliosis; Growth delay; Proximal muscle weakness in lower limbs; Chronic constipation; Ventricular septal defect; Asthma
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
Duane retraction syndrome
Duane syndrome type 1
Duane syndrome type 1; Duane retraction syndrome 2
Duane syndrome type 1; Hypotonia, ataxia, and delayed development syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001822.7(CHN1):c.687_691del	rs886055152	0.00001
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)	rs552090021	0.00001
NM_001822.7(CHN1):c.*214dup	rs574270883
NM_001822.7(CHN1):c.734_737del	rs66480716
NM_001822.7(CHN1):c.628-14dup	rs375494218
NM_001822.7(CHN1):c.628-15_628-14del	rs547068631
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.