ClinVar Miner

List of variants in gene FBN1 studied for mitral valve disorder

Included ClinVar conditions (20):

Abnormality of the skeletal system; Myopia; Cutis laxa; Mitral valve prolapse; Abnormality of connective tissue; Scleroderma
Craniosynostosis syndrome; Short stature; Sparse and thin eyebrow; Hyperextensible skin; Abnormally high-pitched voice; Mitral valve prolapse; Sparse hair
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
Hearing impairment; Scoliosis; High palate; Tall stature; Arachnodactyly; Delayed speech and language development; Dolichocephaly; Long face; Joint hypermobility; Mitral valve prolapse
High palate; Disproportionate tall stature; Mitral valve prolapse; Lumbar scoliosis; Myxomatous mitral valve degeneration
Hypertelorism; Micrognathia; Low-set ears; Deep philtrum; Specific learning disability; Triangular face; Low anterior hairline; Mitral valve prolapse; Gastroesophageal reflux; Low posterior hairline; Abnormality of the lower limb; Thoracolumbar scoliosis; Clinodactyly; Ventricular septal defect
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia disorder
Hypotelorism; Horseshoe kidney; Optic disc pallor; Mitral valve prolapse; Aortic root aneurysm
Inguinal hernia; Cataract; Abnormally lax or hyperextensible skin; Soft skin; Bruising susceptibility; Mitral valve prolapse; Gastroesophageal reflux; Pneumothorax; Difficulty walking; Patellar dislocation; Constrictive median neuropathy; Pain; Congenital hip dislocation
Kyphoscoliosis; High palate; Tall stature; Bilateral cryptorchidism; Vascular dilatation; Joint hypermobility; Mitral valve prolapse; Deep venous thrombosis; Thromboembolism
Migraine; Short stature; High palate; Hypotension; Malar flattening; Abnormal facial shape; Thin skin; Mitral valve prolapse; Pain
Mitral valve prolapse
Mitral valve prolapse, myxomatous 2
Mitral valve prolapse, myxomatous 3
Pes planus; Arachnodactyly; Mitral valve prolapse; Lens luxation; Aortic aneurysm
Pulmonary arterial hypertension; Mitral valve prolapse; Right ventricular hypertrophy; Pulmonary artery dilatation; Right ventricular dilatation; Elevated right atrial pressure; Increased pulmonary vascular resistance; Right bundle branch block
Scoliosis; High palate; Pes planus; Myopia; Dolichocephaly; Mitral valve prolapse; Dilatation of the ascending aorta
Scoliosis; Pes planus; Myopia; Pectus carinatum; Striae distensae; Mitral valve prolapse; Aortic root aneurysm; Pes valgus; Ectopia lentis
Striae distensae; Mitral valve prolapse; Pulmonary artery dilatation
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)	rs1566914005
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)	rs2043485390
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)	rs1555397413
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)	rs1057518812
NM_000138.5(FBN1):c.7829A>G (p.Glu2610Gly)	rs1555393889

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