ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
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.-46C>G rs376208311
NM_000969.5(RPL5):c.-48G>A rs376070413
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.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693
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.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147
NM_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001011.4(RPS7):c.-13C>T rs765604580
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-27C>T rs573443780
NM_001011.4(RPS7):c.-44C>T rs563293592
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.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
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_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs886061323
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001022.3(RPS19):c.-139C>T rs886054467
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.3(RPS19):c.71+12delG rs886054470
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-10A>G rs564634801
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.175_176delinsCT (p.Ser59Leu)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-33C>T rs372794158
NM_001029.5(RPS26):c.-80C>T rs886049687
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
NM_001253383.3(RPL15):c.172+5G>A rs369956511
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.752_754delinsTT (p.Ser251fs)
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_033022.3(RPS24):c.-142A>G rs886047294
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.91G>A (p.Gly31Arg)

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