ClinVar Miner

List of variants in gene NOTCH1 reported as not provided for familial bicuspid aortic valve

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)	rs201077220	0.00034
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	rs201518848	0.00003
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)	rs773185855	0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)	rs766644919	0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)	rs954507677	0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)	rs1401319182	0.00001
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)	rs1247729687

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