ClinVar Miner

Variants studied for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
30 5 65 79 33 199

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPS19 13 2 12 11 4 40
DIPK1A, RPL5 6 1 7 9 4 23
RPS10, RPS10-NUDT3 0 0 5 15 6 23
RPL11 3 1 7 8 3 20
RPS24 2 0 4 10 3 18
GATA1 3 1 7 0 4 15
RPS7 0 0 7 6 2 15
RPL5 0 0 8 6 1 14
RPS26 0 0 4 4 3 11
IQCG, RPL35A 0 0 2 6 0 8
POLR3A, RPS24 0 0 0 3 1 4
RPL26 0 0 2 0 1 3
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, 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
DIPK1A, RPL5, SNORA66 0 0 0 0 1 1
RPS10 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 44 64 14 122
Invitae 18 4 21 16 20 79
OMIM 9 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1

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