ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
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_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
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_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00003
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001011.4(RPS7):c.-109C>T rs142444366

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