ClinVar Miner

List of variants reported as pathogenic for aortic valve disorder by OMIM

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)	rs61755997	0.00020
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	rs201393279	0.00019
ELN, 100-KB DEL
NC_000007.14:g.(74030000_74032000)_(74062117_74062163)del
NM_000501.4(ELN):c.1040del (p.Pro347fs)	rs1563826213
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	rs137854452
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	rs137854453
NM_000501.4(ELN):c.1728dup (p.Val577fs)	rs2132322943
NM_000501.4(ELN):c.1737del (p.Phe580fs)
NM_000501.4(ELN):c.1858+5G>C	rs1554686162
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.526A>T (p.Lys176Ter)	rs137854455
NM_000501.4(ELN):c.800-2A>G	rs727503027
NM_000501.4(ELN):c.800-3C>G	rs397516433
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)	rs1595804976
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu)	rs387907284
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe)	rs387907283
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	rs1246889300
NM_005585.5(SMAD6):c.794del (p.His265fs)	rs1567092071
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)	rs41309764
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)	rs41309766
NM_019055.6(ROBO4):c.2056+1G>T	rs764038221
NOTCH1, PRO1797HIS

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