ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported as likely benign 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)	rs369167693	0.00051
NM_017617.5(NOTCH1):c.6082+10C>T	rs114120958	0.00019
NM_017617.5(NOTCH1):c.6180+9G>A	rs200371378	0.00015
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)	rs758702512	0.00011
NM_017617.5(NOTCH1):c.6083-5C>T	rs199786076	0.00009
NM_017617.5(NOTCH1):c.6082+18C>T	rs200956958	0.00006
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)	rs375920679	0.00002
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)	rs748935957
NM_017617.5(NOTCH1):c.6180+9G>T	rs200371378

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