ClinVar Miner

List of variants reported as uncertain significance for RECON progeroid syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.406G>A (p.Val136Ile) rs138278747 0.00055
NM_002907.4(RECQL):c.868-2A>G rs571176607 0.00003
NM_002907.4(RECQL):c.779A>C (p.His260Pro) rs773219645 0.00001
NM_002907.4(RECQL):c.1258_1282del (p.Phe420fs)
NM_002907.4(RECQL):c.1667_1667+3del rs564485792

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