ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000253.3(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_000253.3(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_005373.2(MPL):c.1653+1delG rs755257605
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018
NM_032957.4(RTEL1):c.3028C>T rs373740199

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.