ClinVar Miner

List of variants studied for familial bicuspid aortic valve by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)	rs4489420	0.62688
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)	rs2229974	0.58641
NM_017617.5(NOTCH1):c.1441+7C>T	rs9411208	0.57467
NM_017617.5(NOTCH1):c.2588-4G>A	rs3125001	0.48926
NM_017617.5(NOTCH1):c.1555+10A>G	rs11145767	0.47945
NM_017617.5(NOTCH1):c.1670-9A>G	rs3124603	0.47096
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)	rs10521	0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)	rs2229971	0.42989
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)	rs2229975	0.12249
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)	rs61751546	0.00283
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	rs201620358	0.00223

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