ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000969.5(RPL5):c.*47T>C
NM_000969.5(RPL5):c.-18C>A rs201295012
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.-42A>C rs145634330
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-48G>A rs376070413
NM_000969.5(RPL5):c.-52C>G rs143326916
NM_000969.5(RPL5):c.-55C>G rs116168890
NM_000969.5(RPL5):c.-58G>T rs200437092
NM_000969.5(RPL5):c.-62C>G rs368663464
NM_000969.5(RPL5):c.-64C>G
NM_000969.5(RPL5):c.-6C>T rs199523145
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.189+267G>C rs138979590
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.3+11G>C
NM_000969.5(RPL5):c.3+12C>T
NM_000969.5(RPL5):c.3+13C>T rs189107197
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.324+14G>T
NM_000969.5(RPL5):c.325-11T>G rs145058455
NM_000969.5(RPL5):c.4-10T>C
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.692dup (p.Thr232fs) rs1571032029
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000969.5(RPL5):c.73+2T>G rs142156224
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
NM_000969.5(RPL5):c.[189+267G>C;189+288A>G189+309A>G189+364G>A189+387A>T]
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.