ClinVar Miner

List of variants studied for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 287
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_24018304)_(24022873_?)del
NC_000001.10:g.(?_24022278)_(24022873_?)del
NC_000001.10:g.(?_93297666)_(93299223_?)del
NC_000003.11:g.(?_197677829)_(197682654_?)del
NC_000003.11:g.(?_197677833)_(197682650_?)del
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000012.10:g.54711095_54731551del
NC_000017.10:g.(?_7572921)_(8285634_?)del
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NM_000546.5(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000546.5(TP53):c.1083del (p.Ser362fs) rs1555524354
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.-6C>T rs199523145
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
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.229G>A (p.Ala77Thr)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.3+13C>T rs189107197
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.325-11T>G rs145058455
NM_000969.5(RPL5):c.325-4A>G rs183825489
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
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.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
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.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.794+121G>A rs10874744
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000975.5(RPL11):c.*52A>G rs60606712
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.-37C>G rs10917413
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698
NM_000975.5(RPL11):c.158-7C>T rs768654673
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000975.5(RPL11):c.397-4A>G rs371228733
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.508-2A>G
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.*14C>A rs10022
NM_000996.4(RPL35A):c.*6C>T rs116874993
NM_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-32-3A>G rs200335648
NM_000996.4(RPL35A):c.-33G>A rs564722971
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
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.*31C>T rs191506876
NM_001011.4(RPS7):c.-104G>A rs371620447
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.-13C>T rs765604580
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-27C>T rs573443780
NM_001011.4(RPS7):c.-36A>C rs17552296
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.-47G>T rs11558965
NM_001011.4(RPS7):c.-86C>T rs186304514
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.274_276GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795
NM_001011.4(RPS7):c.508-12C>A rs2071639
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu)
NM_001011.4(RPS7):c.75+13C>T rs751796318
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001014.4(RPS10):c.-43T>G rs111597547
NM_001014.4(RPS10):c.-47A>G rs529023165
NM_001014.4(RPS10):c.-58C>T rs78454682
NM_001014.4(RPS10):c.150+9delG rs372641476
NM_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.*43A>G rs200231286
NM_001014.5(RPS10):c.-1+218A>C rs4713778
NM_001014.5(RPS10):c.-14C>T rs576997899
NM_001014.5(RPS10):c.-21C>G rs181470609
NM_001014.5(RPS10):c.-29C>T rs140822093
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-37C>T rs9469779
NM_001014.5(RPS10):c.-38_-37del rs886061323
NM_001014.5(RPS10):c.-98T>C rs113071821
NM_001014.5(RPS10):c.1-3C>G rs375500787
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919
NM_001014.5(RPS10):c.135C>T (p.Val45=) rs148901210
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
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
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592
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.-139C>T rs886054467
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-234G>A rs142324259
NM_001022.3(RPS19):c.-274T>C rs77406992
NM_001022.3(RPS19):c.-288A>C rs192556926
NM_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.3(RPS19):c.356+14A= rs1366610
NM_001022.3(RPS19):c.71+12delG rs886054470
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.*54T>C rs527896025
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-10A>G rs564634801
NM_001022.4(RPS19):c.1-14A>G rs201317022
NM_001022.4(RPS19):c.1-9C>A rs376460080
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.173-2A>G
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
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.294_295TG[3] (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
NM_001022.4(RPS19):c.411+12G>A rs61762296
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-1G>A
NM_001022.4(RPS19):c.72-92A>G rs566047445
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-209T>G rs78108003
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.-33C>T rs372794158
NM_001029.5(RPS26):c.-35G>A rs188808121
NM_001029.5(RPS26):c.-3A>G rs181174349
NM_001029.5(RPS26):c.-80C>T rs886049687
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.220_221TG[2] (p.Val75fs) rs1555208596
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
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.172+5G>A rs369956511
NM_001253383.3(RPL15):c.309+91_0del
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) rs372131208
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) rs150572851
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.220+1G>C rs1569499366
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) rs997764249
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser) rs59609788
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.64G>A (p.Ala22Thr) rs782188059
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs)
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_007055.3(POLR3A):c.-6128_-995del
NM_007055.4(POLR3A):c.-103T>A rs117201371
NM_007055.4(POLR3A):c.-35C>G rs201700756
NM_033022.3(RPS24):c.*21C>T rs114512325
NM_033022.3(RPS24):c.*99T>C rs146068394
NM_033022.3(RPS24):c.-109A>G rs3740254
NM_033022.3(RPS24):c.-142A>G rs886047294
NM_033022.3(RPS24):c.-36T>G rs45533232
NM_033022.3(RPS24):c.-50G>A rs190989611
NM_033022.3(RPS24):c.-8T>G rs185722293
NM_033022.3(RPS24):c.13_14del (p.Val5fs)
NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.3(RPS24):c.168T>C (p.Phe56=) rs57866839
NM_033022.3(RPS24):c.177A>G (p.Gly59=) rs6496
NM_033022.3(RPS24):c.189T>C (p.His63=) rs201805132
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.235C>T (p.Leu79=) rs192994060
NM_033022.3(RPS24):c.280-11_280-10delTT rs756756010
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.333G>A (p.Lys111=) rs144291219
NM_033022.3(RPS24):c.363A>G (p.Ala121=) rs139181869
NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) rs147128920
NM_033022.3(RPS24):c.391-3C>A rs7899453
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.3(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033022.3(RPS24):c.6C>T (p.Asn2=) rs746098498
NM_033022.3(RPS24):c.91G>A (p.Gly31Arg)
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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