ClinVar Miner

List of variants studied for anemia (disease) by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) rs1554341499
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) rs1554341363
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399

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.