ClinVar Miner

List of variants studied for anemia (disease) by GenomeConnect, ClinGen

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NG_000006.1:g.34164_37967del3804
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_203342.2(EPB41):c.1378G>C (p.Ala460Pro)

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.