ClinVar Miner

List of variants in gene HARS2 studied for sensorineural hearing loss disorder

Included ClinVar conditions (30):

Autism; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss disorder; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormal sternum morphology; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severely reduced visual acuity; Relative macrocephaly; Bilateral cleft lip; Cleft palate
Cryptorchidism; Sensorineural hearing loss disorder; High palate; Pes planus; Delayed speech and language development; Macrocephaly; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Hypotonia
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
Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder
Hypertelorism; Sensorineural hearing loss disorder; Seizure; High palate; Brachycephaly; Hypoplasia of the corpus callosum; Absent speech; Anteverted nares; Wide mouth; Microcephaly; Strabismus; Decreased lacrimation; Generalized hypotonia; Abnormal nail morphology; Downturned corners of mouth; Inability to walk by childhood/adolescence; Severe global developmental delay
Legg-Calve-Perthes disease; Sensorineural hearing loss disorder; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Telangiectasia of the skin
Sensorineural hearing loss disorder
Sensorineural hearing loss disorder; Cerebellar ataxia; Cognitive impairment; Paroxysmal dystonia; Premature ovarian insufficiency; Peripheral neuropathy
Sensorineural hearing loss disorder; Cone-rod dystrophy
Sensorineural hearing loss disorder; Developmental disorder
Sensorineural hearing loss disorder; Global developmental delay; Generalized-onset seizure; Normochromic microcytic anemia
Sensorineural hearing loss disorder; Global developmental delay; Lactic acidosis; Hypotonia
Sensorineural hearing loss disorder; Global developmental delay; Seizure; Hypoglycemia; Hepatomegaly
Sensorineural hearing loss disorder; Global developmental delay; Short stature; Microcephaly
Sensorineural hearing loss disorder; Global developmental delay; ZSCAN10 Deficiency
Sensorineural hearing loss disorder; Heart, malformation of; Abnormality of the inner ear; Intellectual disability, moderate; Postnatal growth retardation; Primary microcephaly
Sensorineural hearing loss disorder; Leukodystrophy; Global developmental delay
Sensorineural hearing loss disorder; Myopathy
Sensorineural hearing loss disorder; Myopathy; Premature ovarian insufficiency
Sensorineural hearing loss disorder; Optic atrophy
Sensorineural hearing loss disorder; Pes planus; Distal muscle weakness; Foot dorsiflexor weakness
Sensorineural hearing loss disorder; Premature ovarian insufficiency
Sensorineural hearing loss disorder; Progressive sensorineural hearing impairment; Impaired vibration sensation in the lower limbs; EMG abnormality; Peripheral axonal neuropathy; EMG: axonal abnormality; Motor polyneuropathy; Peripheral neuropathy
Sensorineural hearing loss disorder; Reduced visual acuity; Dyssynergia; Atrophy of the brain and cerebellum
Sensorineural hearing loss disorder; Rod-cone dystrophy; Adult Fanconi syndrome
Sensorineural hearing loss disorder; Seizure; Intellectual disability
Sensorineural hearing loss disorder; Seizure; Intellectual disability; Hypotonia
Sensorineural hearing loss disorder; Short stature; Glucose intolerance; Stroke disorder
Sensorineural hearing loss disorder; Short stature; Hearing impairment; Epiphyseal dysplasia; Flattened epiphysis; Disproportionate short stature; Craniofacial asymmetry; Ventricular septal defect
Sensorineural hearing loss disorder; Sleep abnormality; Chronic otitis media; Chronic diarrhea; Episodic abdominal pain; Abnormal dental morphology; Facial palsy; Cementoma; Ossifying fibroma of the jaw

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012208.4(HARS2):c.413G>A (p.Arg138His)	rs1432653451	0.00001
NM_012208.4(HARS2):c.1439G>A (p.Arg480His)	rs200089613
NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer)	rs1581550832

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