ClinVar Miner

List of variants in gene SIM1 studied for nuclear oculomotor paralysis

Included ClinVar conditions (11):

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 retraction syndrome 2
Duane retraction syndrome 3 with or without deafness
Duane syndrome type 1
Duane syndrome type 1; Duane retraction syndrome 2
Duane syndrome type 1; Hypotonia, ataxia, and delayed development syndrome
Fibrosis of extraocular muscles, congenital, 5
Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness
Oromandibular-limb hypogenesis spectrum

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_005068.3(SIM1):c.1994G>A (p.Arg665His)	rs146866401	0.00255
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)	rs74726213	0.00058

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