ClinVar Miner

List of variants reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	rs193922829	0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	rs560246798	0.00001
GRCh37/hg19 1p36.21(chr1:13801823-14012604)
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	rs749541061

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