ClinVar Miner

List of variants reported as uncertain significance for esophageal atresia/tracheoesophageal fistula by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (8):

Esophageal atresia
Esophageal atresia; Pyloric stenosis
Esophageal atresia; Seizure; Neurodevelopmental delay; Ventricular septal defect
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula
Familial cancer of breast; Fanconi anemia complementation group J; Tracheoesophageal fistula
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Tracheoesophageal fistula
Motor delay; Scoliosis; Downslanted palpebral fissures; Specific learning disability; Stenosis of the external auditory canal; Tracheoesophageal fistula; Bilateral conductive hearing impairment; Asymmetry of the mandible; Hypoplasia of the premaxilla; Increased overbite
Tracheoesophageal fistula

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser)	rs952023183	0.00004
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)	rs760824351	0.00003
NM_144643.4(SCLT1):c.1421T>C (p.Ile474Thr)	rs747582277	0.00002

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