ClinVar Miner

List of variants in gene RPS10, RPS10-NUDT3 studied for Diamond-Blackfan anemia 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.-37C>T rs9469779 0.65560
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_001014.5(RPS10):c.-29C>T rs140822093 0.00218
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001014.5(RPS10):c.-21C>G rs181470609 0.00143
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_001014.5(RPS10):c.*43A>G rs200231286 0.00044
NM_001014.5(RPS10):c.-14C>T rs576997899 0.00031
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001014.5(RPS10):c.-27C>A rs749286823 0.00027
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001014.5(RPS10):c.1-3C>G rs375500787 0.00010
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971 0.00008
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) rs368791535 0.00006
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_001014.5(RPS10):c.*25G>T rs886061321 0.00002
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001014.5(RPS10):c.-9G>C rs899828117
NM_001014.5(RPS10):c.168C>T (p.Gly56=) rs1765897705
NM_001014.5(RPS10):c.260dup (p.Glu88fs) rs1581931541
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021

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.