ClinVar Miner

List of variants reported as pathogenic for Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus by Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
46;XX;ins(5;6)(p13;p24p25)dn

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