ClinVar Miner

List of variants in gene RPL5 studied for anemia

Included ClinVar conditions (281):
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_000969.5(RPL5):c.-55C>G rs116168890 0.00583
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_000969.5(RPL5):c.-52C>G rs143326916 0.00232
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_000969.5(RPL5):c.-42A>C rs145634330 0.00150
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_000969.5(RPL5):c.-48G>A rs376070413 0.00017
NM_000969.5(RPL5):c.-18C>A rs201295012 0.00013
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-58G>T rs200437092
NM_000969.5(RPL5):c.-64C>G rs1006135937
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A rs752282235
NM_000969.5(RPL5):c.1A>C (p.Met1Leu) rs2100672432
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.3+11G>C rs376414614
NM_000969.5(RPL5):c.3+18T>G
NM_000969.5(RPL5):c.3+19C>G
NM_000969.5(RPL5):c.3+1G>A
NM_000969.5(RPL5):c.3+3G>A
NM_000969.5(RPL5):c.3+3G>T rs200628272
NM_000969.5(RPL5):c.3+5G>A
NM_000969.5(RPL5):c.3+5G>C
NM_000969.5(RPL5):c.3G>A (p.Met1Ile)
RPL5, 5-BP DEL/39-BP INS, NT498

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.