ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NC_000006.12:g.135105435A>G rs4895441
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_022893.4(BCL11A):c.386-24278G>A rs11886868
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_203330.2(CD59):c.190T>G (p.Cys64Gly) rs1554939509

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.