ClinVar Miner

List of variants reported as uncertain significance for patent ductus arteriosus by New York Genome Center

Included ClinVar conditions (18):

Brachydactyly type B1; Developmental cataract; Teeth, fused; Seizure; Posteriorly rotated ears; Delayed speech and language development; Downslanted palpebral fissures; Open mouth; Strabismus; Sparse and thin eyebrow; Toe clinodactyly; Drooling; Abnormality of temperature regulation; Prominent metopic ridge; Impaired pain sensation; Generalized neonatal hypotonia; Inflammatory abnormality of the skin; Midface retrusion; Chronic constipation; Patent ductus arteriosus
Char syndrome
Char syndrome; Patent ductus arteriosus 2
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Abnormal pulmonary interstitial morphology; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus
Coarctation of aorta; Atrial septal defect; Abnormal cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Hypotonia; Patent ductus arteriosus
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Epicanthus; Micrognathia; Tapered finger; Coarse facial features; Abnormal facial shape; Bulbous nose; Depressed nasal bridge; Thick upper lip vermilion; Macrocephaly; Abnormality of the face; Low anterior hairline; Large hands; Joint hypermobility; Left ventricular hypertrophy; Patent ductus arteriosus
Failure to thrive; Atrial septal defect, ostium secundum type; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus
Global developmental delay; Abnormality of the face; Ventral hernia; Patent ductus arteriosus
Global developmental delay; Failure to thrive; Developmental dysplasia of the hip; Patent foramen ovale; Atrial septal defect, ostium secundum type; Polymicrogyria; Microcephaly; Microretrognathia; Cerebellar vermis hypoplasia; High anterior hairline; Abnormality of the pulmonary veins; Patent ductus arteriosus
PDA1
Patent ductus arteriosus 2
Patent ductus arteriosus 3
Patent foramen ovale; Abnormal facial shape; Patent ductus arteriosus
Patent foramen ovale; Dysplastic corpus callosum; Patent ductus arteriosus
Pulmonary arterial hypertension; Respiratory failure requiring assisted ventilation; Patent ductus arteriosus
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
Seizure; Abnormal facial shape; Delayed speech and language development; Gray matter heterotopia; Intellectual disability, moderate; Periventricular heterotopia; Cerebral white matter hypoplasia; Patent ductus arteriosus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001136239.4(PRDM6):c.1031C>T (p.Ser344Leu)	rs1333586171	0.00002
NM_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys)
NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu)

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