ClinVar Miner

List of variants reported as pathogenic for Hydronephrosis; Pulmonary hypoplasia; Hydroureter; Aplasia/hypoplasia involving bones of the lower limbs; Absence of the sacrum; Hypoplastic left heart syndrome by Department of Medical Genetics,Nizam's Institute of Medical Sciences

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Total variants: 1
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HGVS dbSNP
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494

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