ClinVar Miner

List of intergenic variants reported as uncertain significance for Coloboma of optic disc; Unsteady gait; Ligamentous laxity; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Piebaldism; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn

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