ClinVar Miner

List of variants studied for familial bicuspid aortic valve by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (18):

Adams-Oliver syndrome 2; Aortic valve disorder
Adams-Oliver syndrome 5; Aortic valve disorder
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
Ascending tubular aorta aneurysm; Bicuspid aortic valve
Bicuspid aortic valve
Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve
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
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
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
Radioulnar synostosis; Aortic valve disease 2
Radioulnar synostosis; Heart, malformation of; Bicuspid aortic valve

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	rs751007903	0.00002
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)	rs750295442	0.00001
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)	rs1057518788
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	rs1057518920
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)	rs768625801
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)	rs377294245
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)	rs1843005523

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