ClinVar Miner

List of variants reported as uncertain significance for Diaphyseal dysplasia; Brachycephaly; Osteopenia; Diaphyseal sclerosis; Elevated alkaline phosphatase; Hypoplastic acetabulae; Vitamin D deficiency by Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology

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Total variants: 1
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NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) rs1591284438

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