ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Molecular Diagnostics Laboratory, M Health: University of Minnesota

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[2] (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016

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.