ClinVar Miner

Variants studied for Diamond-Blackfan anemia 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
77 12 103 66 50 304

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPS19 23 3 24 12 11 71
GATA1 16 2 21 7 13 59
DIPK1A, RPL5 14 4 20 8 4 49
RPL11 11 1 9 10 5 36
RPS24 4 0 7 10 6 27
RPS10, RPS10-NUDT3 2 1 9 5 6 23
RPL26 0 0 6 4 1 11
RPS10 0 1 1 3 1 6
POLR3A, RPS24 0 0 0 3 1 4
RPS7 0 0 1 2 0 3
RPL5 1 0 0 1 1 2
RPS20 2 0 0 0 0 2
TP53 2 0 0 0 0 2
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC106794092, LOC112533665, LOC116276454, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 1 0 0 0 0 1
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 0 0 1 0 0 1
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35 0 0 1 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 1
DIPK1A, RPL5, SNORD21 1 0 0 0 0 1
GATA1, GLOD5, SUV39H1, WAS 0 0 1 0 0 1
GATA1, LOC119407405 0 0 0 1 0 1
MIR6797, RPS19 0 0 1 0 0 1
ZNF699 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 64 11 84 50 37 246
Illumina Clinical Services Laboratory,Illumina 0 0 17 14 14 45
OMIM 9 0 0 0 0 9
Baylor Genetics 0 0 2 0 0 2
Mendelics 0 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 1 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 2
Bertuch Lab,Baylor College of Medicine 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1

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