ClinVar Miner

List of variants studied for Iron-refractory iron deficiency anemia by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 0.00004
NM_001374504.1(TMPRSS6):c.1537G>A (p.Glu513Lys) rs387907018 0.00002
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001374504.1(TMPRSS6):c.1877_1878dup (p.Lys627fs) rs869320724 0.00001
NM_001374504.1(TMPRSS6):c.326C>A (p.Ala109Asp) rs267607121 0.00001
NM_001374504.1(TMPRSS6):c.1152T>G (p.Tyr384Ter) rs137853122
NM_001374504.1(TMPRSS6):c.1555+1G>A rs786205058
NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs) rs767094129
NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs) rs786205060
NM_001374504.1(TMPRSS6):c.2113+1G>C rs786205059

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.