ClinVar Miner

List of variants in gene CYB5R3 reported as pathogenic for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000398.6(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.6(CYB5R3):c.382T>C (p.Ser128Pro) rs121965006
NM_000398.6(CYB5R3):c.463+8G>C rs200872504
NM_000398.6(CYB5R3):c.464_547del rs794728013
NM_000398.6(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609
NM_000398.6(CYB5R3):c.610T>C (p.Cys204Arg) rs121965011
NM_000398.6(CYB5R3):c.655C>T (p.Arg219Ter) rs121965010
NM_000398.6(CYB5R3):c.734-1G>T rs794728011
NM_000398.6(CYB5R3):c.757G>A (p.Val253Met) rs144071404
NM_000398.6(CYB5R3):c.817_819del (p.Met273del) rs794728012
NM_000398.6(CYB5R3):c.895_897delTTC (p.Phe299del) rs121965012

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.