ClinVar Miner

List of variants in gene RPS24 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001142283.1(RPS24):c.13_14del (p.Val5fs)
NM_001142283.1(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_007055.3(POLR3A):c.-6128_-995del
NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189

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.