ClinVar Miner

List of variants reported as uncertain significance for Diamond-Blackfan anemia 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000996.4(RPL35A):c.-33G>A rs564722971 0.00133
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) rs533670667 0.00006
NM_000996.4(RPL35A):c.-31C>T rs766043927 0.00001
NM_000996.4(RPL35A):c.101A>T (p.Tyr34Phe) rs773889184 0.00001
NM_000996.4(RPL35A):c.113A>G (p.Glu38Gly) rs1401148284 0.00001
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly) rs773689278 0.00001
NM_000996.4(RPL35A):c.270C>T (p.Ser90=) rs772084930 0.00001
NM_000996.4(RPL35A):c.28A>G (p.Ile10Val) rs553548757 0.00001
NM_000996.4(RPL35A):c.35C>T (p.Ala12Val) rs780895868 0.00001
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp) rs1349665099 0.00001
NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser) rs1283030430 0.00001
NC_000003.12:g.(?_197950958)_(197955783_?)dup
NC_000003.12:g.(?_197950968)_(197955773_?)dup
NM_000996.4(RPL35A):c.-32-2A>T
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.109G>A (p.Asp37Asn) rs1401367420
NM_000996.4(RPL35A):c.11+3A>G
NM_000996.4(RPL35A):c.11+4C>T
NM_000996.4(RPL35A):c.11+6C>A
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.138A>G (p.Arg46=)
NM_000996.4(RPL35A):c.158C>G (p.Ala53Gly)
NM_000996.4(RPL35A):c.162G>T (p.Lys54Asn)
NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)
NM_000996.4(RPL35A):c.184G>A (p.Gly62Ser)
NM_000996.4(RPL35A):c.202A>G (p.Arg68Gly)
NM_000996.4(RPL35A):c.209T>C (p.Ile70Thr)
NM_000996.4(RPL35A):c.253C>T (p.Arg85Cys)
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.278C>T (p.Pro93Leu)
NM_000996.4(RPL35A):c.289A>G (p.Ile97Val)
NM_000996.4(RPL35A):c.301A>G (p.Ile101Val)
NM_000996.4(RPL35A):c.309+3G>C
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_000996.4(RPL35A):c.320C>T (p.Pro107Leu) rs2109818973
NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe) rs1366033915
NM_000996.4(RPL35A):c.44A>G (p.Lys15Arg)
NM_000996.4(RPL35A):c.77C>T (p.Ala26Val) rs2109804811
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.85A>G (p.Lys29Glu)

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.