ClinVar Miner

List of variants studied for Diamond-Blackfan anemia by OMIM

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NC_000012.10:g.54711095_54731551del
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001030.6(RPS27):c.90del (p.Tyr31fs) rs1085307115
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001032.4(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.4(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_001253383.3(RPL15):c.309+91_0del
NM_007055.3(POLR3A):c.-6128_-995del
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.3(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
RPL11, 2-BP DEL, 60CT
RPL11, 3-BP DEL, 482AGG
RPL11, IVS2AS, G-A, -1
RPL5, 1-BP INS, 235T
RPL5, 2-BP DEL, 173GA
RPL5, 5-BP DEL/39-BP INS, NT498
RPL5, IVS2DS, T-G, +2
RPS10, 1-BP INS, 260C
RPS17, 2.9-KB DEL
RPS19, LEU45GLN AND 2-BP INS, 160CT
nsv1197578

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