ClinVar Miner

Variants studied for Diamond-Blackfan anemia

Coded as:
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
132 38 291 368 71 882

Gene and significance breakdown #

Total genes and gene combinations: 28
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DIPK1A, RPL5 37 7 83 66 14 205
RPS19 36 12 48 58 12 162
RPL11 23 9 32 50 11 121
RPS10, RPS10-NUDT3 4 1 43 51 8 105
RPS24 5 1 30 53 7 93
RPL26 0 0 29 30 5 63
LOC129929673, RPL11 2 0 3 11 4 20
RPS26 6 4 2 2 1 15
RPL5 3 0 4 4 4 14
IQCG, RPL35A 1 2 6 4 0 13
RPS7 1 0 4 8 0 13
RPL19 0 0 0 10 1 11
LOC130004144, RPS24 2 0 0 7 0 9
RPS17 3 0 0 5 0 8
RPS10 0 1 1 3 1 6
MIR6797, RPS19 1 0 1 3 0 5
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 3
HEATR3 1 1 0 0 0 2
LOC130004143, POLR3A, RPS24 0 0 0 2 0 2
LOC130004144, POLR3A, RPS24 0 0 0 1 2 2
RPS20 2 0 0 0 0 2
TP53 2 0 0 0 0 2
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 1
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, 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, 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
ZNF699 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 83 19 262 311 63 738
Ambry Genetics 57 19 25 73 9 183
Illumina Laboratory Services, Illumina 0 0 6 9 6 21
Department of Pediatrics, Hirosaki University Graduate School of Medicine 2 0 0 0 0 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.