ClinVar Miner

List of variants reported as benign for conotruncal heart malformations by Genome-Nilou Lab

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)	rs1051419	0.71278
NM_012082.4(ZFPM2):c.302-13C>T	rs3735953	0.68152
NM_000214.3(JAG1):c.440-15T>C	rs2273060	0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)	rs1131695	0.42930
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)	rs1051421	0.22213
NM_000214.3(JAG1):c.2916+27del	rs3215563

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