ClinVar Miner

List of variants studied for aortic valve disorder by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (27):

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
Aortic valve stenosis
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
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormality of the nail; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
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
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia disorder
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
Pulmonic stenosis; Supravalvar aortic stenosis
Radioulnar synostosis; Aortic valve disease 2
Radioulnar synostosis; Heart, malformation of; Bicuspid aortic valve
Subvalvular aortic stenosis
Supravalvar aortic stenosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1150+1G>A	rs727503030	0.00006
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.2(ELN):c.1153delG	rs727503031
NM_000501.4(ELN):c.1097-1G>A	rs727503029
NM_000501.4(ELN):c.1113dup (p.Ala372fs)	rs730880355
NM_000501.4(ELN):c.1208del (p.Gly403fs)	rs727504433
NM_000501.4(ELN):c.131del (p.Pro44fs)	rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	rs137854452
NM_000501.4(ELN):c.171del (p.Pro58fs)	rs1554666513
NM_000501.4(ELN):c.1733del (p.Pro578fs)	rs727503782
NM_000501.4(ELN):c.1744del (p.Ala582fs)	rs727503783
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)	rs727503033
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)	rs727503034
NM_000501.4(ELN):c.1918+1G>A	rs727503035
NM_000501.4(ELN):c.435del (p.Leu146fs)	rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs)	rs727503022
NM_000501.4(ELN):c.608del (p.Pro203fs)	rs727504581
NM_000501.4(ELN):c.634A>T (p.Lys212Ter)	rs1554672587
NM_000501.4(ELN):c.741del (p.Thr248fs)	rs727503026
NM_000501.4(ELN):c.800-2A>G	rs727503027
NM_000501.4(ELN):c.800-3C>G	rs397516433
NM_000501.4(ELN):c.862dup (p.Ala288fs)	rs727503028
NM_000501.4(ELN):c.889+2T>C	rs727504419
NM_000501.4(ELN):c.890-2A>G	rs727504434

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