ClinVar Miner

List of variants reported as uncertain significance 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: 44
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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.-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.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
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_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-37T>G rs886058265
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.292-9A>T rs746941533
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
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.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.172+5G>C rs886054471
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.93C>T (p.Pro31=) rs760255764
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

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