ClinVar Miner

List of variants reported as uncertain significance by Laboratory of Molecular Genetics and Genomics, Rennes University Hospital

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014585.6(SLC40A1):c.1384G>A (p.Val462Ile) rs572245704 0.00003
NM_014585.6(SLC40A1):c.306A>G (p.Ser102=) rs201485374 0.00001
NM_014585.6(SLC40A1):c.1035G>C (p.Leu345Phe) rs1436123615
NM_014585.6(SLC40A1):c.1048G>A (p.Ala350Thr) rs2105620312
NM_014585.6(SLC40A1):c.1049C>T (p.Ala350Val) rs1553493234
NM_014585.6(SLC40A1):c.1151T>G (p.Leu384Trp) rs2105620216
NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu) rs752405201
NM_014585.6(SLC40A1):c.140C>T (p.Ser47Phe) rs2105631748
NM_014585.6(SLC40A1):c.1520A>G (p.His507Arg) rs863224768
NM_014585.6(SLC40A1):c.517A>G (p.Met173Val) rs1278518794

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