ClinVar Miner

List of intergenic variants reported as pathogenic for Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormality of the nail; Mitral regurgitation; Aortic regurgitation; Capillary hemangiomas; 2-3 toe cutaneous syndactyly; Muscular hypotonia; Patent ductus arteriosus

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;XY;inv(6)(p22q13)dn

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