ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp) rs104893664 0.00004
NM_014585.6(SLC40A1):c.1384G>A (p.Val462Ile) rs572245704 0.00003
NM_014585.6(SLC40A1):c.289G>A (p.Val97Met) rs886055361 0.00001
NM_014585.6(SLC40A1):c.306A>G (p.Ser102=) rs201485374 0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377 0.00001
NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn) rs753603407 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.1468G>A (p.Gly490Ser) rs1313335539
NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp) rs1060501102
NM_014585.6(SLC40A1):c.1502A>G (p.Tyr501Cys) rs1409883266
NM_014585.6(SLC40A1):c.1520A>G (p.His507Arg) rs863224768
NM_014585.6(SLC40A1):c.188T>C (p.Val63Ala) rs2105631709
NM_014585.6(SLC40A1):c.212C>T (p.Ser71Phe) rs1040988213
NM_014585.6(SLC40A1):c.238G>A (p.Gly80Ser) rs978427853
NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly) rs387907374
NM_014585.6(SLC40A1):c.442A>G (p.Thr148Ala) rs2105628182
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly) rs104893663
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del) rs878854984
NM_014585.6(SLC40A1):c.517A>G (p.Met173Val) rs1278518794
NM_014585.6(SLC40A1):c.533G>A (p.Arg178Gln) rs1449300685
NM_014585.6(SLC40A1):c.536G>C (p.Arg179Thr) rs765023388
NM_014585.6(SLC40A1):c.554A>C (p.Asn185Thr) rs2105622062
NM_014585.6(SLC40A1):c.611G>T (p.Gly204Val) rs1205429003
NM_014585.6(SLC40A1):c.616G>C (p.Gly206Arg) rs770303749
NM_014585.6(SLC40A1):c.679T>G (p.Tyr227Asp) rs2105621916
NM_014585.6(SLC40A1):c.698T>C (p.Leu233Pro) rs1278475785
NM_014585.6(SLC40A1):c.968G>A (p.Gly323Asp) rs104893671

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