ClinVar Miner

List of variants in gene JAG1 studied for aorta coarctation

Included ClinVar conditions (6):

Ankyloglossia; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect
Atypical coarctation of aorta
Coarctation of aorta; Atrial septal defect; Abnormal cardiovascular system morphology; Transposition of the great arteries; Hypertonia; Hemiparesis; Cerebral ischemia; Lower limb muscle weakness; Double inlet left ventricle; Hypoplastic aortic arch; Hypotonia; Patent ductus arteriosus
Coarctation of aorta; Tall stature; Specific learning disability
Cryptorchidism; Coarctation of aorta
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

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)	rs1600184363
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)	rs1600181733
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)	rs1555827789
NM_000214.3(JAG1):c.439+1G>A	rs863223648

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