ClinVar Miner

List of variants studied for aplastic anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) rs373709958
NM_032043.2(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068
NM_032043.2(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763

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.