ClinVar Miner

List of variants studied for conotruncal heart malformations by New York Genome Center

Included ClinVar conditions (20):

Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease
Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Atrial septal defect 7; Conotruncal heart malformations; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Conotruncal anomaly face syndrome
Conotruncal heart malformations
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9
Double outlet right ventricle
Familial atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Visceral heterotaxy; Single Ventricle Defect
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border
Isolated agenesis of gallbladder; Double outlet right ventricle; Bilateral cleft palate; Ventricular septal defect
Obesity; Tetralogy of Fallot; Short stature; Abnormal cardiovascular system morphology; Abnormal facial shape; Intellectual disability
Persistent truncus arteriosus
Tetralogy of Fallot
Tetralogy of Fallot; Microcephaly; Cleft palate
Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)	rs1192078635
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)	rs759518211
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser)	rs1358735679
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys)	rs904551659

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