ClinVar Miner

List of variants studied for familial bicuspid aortic valve by New York Genome Center

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)	rs80232004	0.00101
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)	rs559917218	0.00034
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)	rs200232299	0.00003
NM_006849.4(PDIA2):c.383G>A (p.Arg128His)	rs373590123	0.00002
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro)	rs1457962668	0.00001
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile)	rs1436851649
NM_005585.5(SMAD6):c.789del (p.Tyr264fs)
NM_017617.5(NOTCH1):c.2278_2282del (p.Asn760fs)

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