ClinVar Miner

List of variants studied for anemia (disease) by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_000253.3(MTTP):c.1769+14C>T rs41275713
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_001142446.2(ANK1):c.2448C>T (p.Thr816=) rs2304880
NM_001142446.2(ANK1):c.3036G>C (p.Leu1012=) rs504574
NM_001142446.2(ANK1):c.414C>T (p.Asn138=) rs2304871
NM_001142446.2(ANK1):c.5219+16T>C rs508112
NM_001142446.2(ANK1):c.5388G>A (p.Val1796=) rs750625
NM_001142446.2(ANK1):c.5602-3T>C rs515071
NM_002389.4(CD46):c.417A>G (p.Leu139=) rs12126088
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310

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.