ClinVar Miner

List of variants reported as likely pathogenic for anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000037.4(ANK1):c.1135del (p.Cys379fs) rs2150641017
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.2296-2A>C
NM_000037.4(ANK1):c.427-2A>G
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632

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.