ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported as benign for aortic valve disease 1

Included ClinVar conditions (14):

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
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; 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.6180+44T>C	rs9632944	0.12085
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	rs186453356	0.00235
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	rs188357478	0.00108
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)	rs73668311	0.00061
NM_017617.5(NOTCH1):c.6083-4G>A	rs570242146	0.00008
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)	rs201625763	0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)	rs757372588	0.00004
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)	rs202198360	0.00002
NM_017617.5(NOTCH1):c.6083-10T>G	rs1380449680	0.00002

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