ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp) rs104893664 0.00004
NM_014585.6(SLC40A1):c.289G>A (p.Val97Met) rs886055361 0.00003
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.1468G>A (p.Gly490Ser) rs1313335539
NM_014585.6(SLC40A1):c.1502A>G (p.Tyr501Cys) rs1409883266
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.