ClinVar Miner

List of variants studied for Diamond-Blackfan anemia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP
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.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
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.403A>G (p.Ile135Val) rs200075817
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.794+121G>A rs10874744
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
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.153C>T (p.Ser51=) rs80133698
NM_000975.5(RPL11):c.158-7C>T rs768654673
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
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_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.21C>T (p.Ser7=) rs145660527
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860
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.292-9A>T rs746941533
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.508-12C>A rs2071639
NM_001011.4(RPS7):c.75+13C>T rs751796318
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_001014.5(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.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
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_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_001022.4(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.172+5G>C rs886054471
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_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.327T>A (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
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.168T>C (p.Phe56=) rs57866839
NM_033022.3(RPS24):c.177A>G (p.Gly59=) rs6496
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.333G>A (p.Lys111=) rs144291219
NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) rs147128920
NM_033022.3(RPS24):c.391-3C>A rs7899453

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