ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.-1+218A>C rs4713778 0.99812
NM_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_000969.5(RPL5):c.794+121G>A rs10874744 0.58918
NM_001014.4(RPS10):c.-58C>T rs78454682 0.09137
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NM_001014.5(RPS10):c.-98T>C rs113071821 0.01181
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001022.3(RPS19):c.-139C>T rs886054467 0.00001
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.4(RPS19):c.71+12del rs886054470
NM_033022.4(RPS24):c.280-11_280-10del rs756756010

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