ClinVar Miner

List of variants studied for congenital anomaly of the great arteries by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (14):

Aortic arch interruption
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
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly
Hemivertebrae; Renal agenesis; Right aortic arch
Pulmonic stenosis
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma
Pulmonic stenosis; Intellectual disability
Pulmonic stenosis; Intellectual disability; Noonan-like facies
Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus
Pulmonic stenosis; Short stature; Ptosis; Abnormal sternum morphology
Pulmonic stenosis; Supravalvar aortic stenosis
Pulmonic stenosis; Tricuspid regurgitation; Pulmonary valve atresia
Pulmonic stenosis; Webbed neck; Downslanted palpebral fissures; Premature birth; Wide intermamillary distance; High forehead; Low-set, posteriorly rotated ears; Ventricular hypertrophy; Neonatal respiratory distress; Ventricular septal defect
Scimitar syndrome

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

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	rs765379963	0.00002
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	rs398124211

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