ClinVar Miner

List of variants studied for aortic disorder by Centre of Medical Genetics, University of Antwerp

Included ClinVar conditions (38):

Adams-Oliver syndrome 2; Aortic valve disorder
Adams-Oliver syndrome 5; Aortic valve disorder
Ankyloglossia; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect
Aortic aneurysm
Aortic aneurysm, familial abdominal, 1
Aortic valve disease 1
Aortic valve disease 1; Adams-Oliver syndrome 5
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection
Aortic valve disease 2
Aortic valve disease 2; Craniosynostosis 7
Aortic valve disease 3
Aortic valve stenosis
Ascending tubular aorta aneurysm; Bicuspid aortic valve
Ascending tubular aorta aneurysm; Scoliosis; Tall stature; Joint hypermobility; High myopia; Aortic aneurysm
Atypical coarctation of aorta
Bicuspid aortic valve
Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve
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
Coarctation of aorta; Tall stature; Specific learning disability
Cryptorchidism; Coarctation of aorta
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate
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; Abnormality of the nail; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Epicanthus; Hypertelorism; Coarctation of aorta; Global developmental delay; Inguinal hernia; Bilateral cryptorchidism; Downslanted palpebral fissures; Short neck; Thin vermilion border; Wide intermamillary distance; Wide nose; Penile hypospadias; Low-set, posteriorly rotated ears; Thickened helices; Strabismus; Abnormal number of hair whorls; Bicuspid aortic valve; Smooth philtrum
Hereditary palmoplantar keratoderma; Bicuspid aortic valve
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia disorder
Loeys-Dietz syndrome; Thoracic aortic aneurysm; Thoracic aortic dissection
Migraine; Atrial septal defect, ostium secundum type; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve
Pes planus; Arachnodactyly; Mitral valve prolapse; Lens luxation; Aortic aneurysm
Pulmonic stenosis; Supravalvar aortic stenosis
Radioulnar synostosis; Aortic valve disease 2
Radioulnar synostosis; Heart, malformation of; Bicuspid aortic valve
Subvalvular aortic stenosis
Supravalvar aortic stenosis
Thoracic aortic aneurysm

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

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)	rs760169368	0.00001
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
GRCh37/hg19 19p12(chr19:20834979-20987550)
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)	rs1562569196
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)	rs766692577
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala)	rs201782046
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)	rs900988907
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	rs1246889300
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala)	rs768542939
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)	rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)	rs1419095990
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)	rs1567092020
NM_005585.5(SMAD6):c.794del (p.His265fs)	rs1567092071

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