ClinVar Miner

Variants studied for DKC1-related disorder

Included ClinVar conditions (7):
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 not provided total
24 9 426 255 28 45 761

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACD 3 0 289 190 17 3 499
DCLRE1B 0 0 62 29 4 0 95
DKC1 17 8 16 16 7 40 85
ACD, LOC130059224 0 1 56 19 0 0 75
RTEL1, RTEL1-TNFRSF6B 2 0 0 0 0 0 2
AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATXN1L, B3GNT9, BEAN1, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH16, CDH3, CDH5, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, COG4, COG8, CTCF, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, DYNC1LI2, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, GFOD2, HAS3, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LOC400541, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR328, MTSS2, NAE1, NFAT5, NFATC3, NIP7, NOB1, NOL3, NQO1, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PRMT7, PSKH1, PSMB10, RANBP10, RIPOR1, RRAD, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNTB2, ST3GAL2, TANGO6, TAT, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TSNAXIP1, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF19, ZNF23, ZNF821 0 0 1 0 0 0 1
DKC1, LOC130068886 1 0 1 1 0 1 1
POT1 0 0 1 0 0 0 1
TERT 1 0 0 0 0 0 1
TINF2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 406 238 21 0 666
GeneReviews 1 0 0 0 0 39 40
PreventionGenetics, part of Exact Sciences 0 0 7 13 2 0 22
UniProtKB/Swiss-Prot 0 0 0 0 0 22 22
OMIM 16 0 0 0 0 0 16
Genome-Nilou Lab 0 0 0 0 14 0 14
Fulgent Genetics, Fulgent Genetics 0 0 4 1 1 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 2 0 0 5
Baylor Genetics 0 1 2 1 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 2
3billion 0 0 2 0 0 0 2
Pediatric Department 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
Bone Marrow Failure laboratory, Queen Mary University London 0 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institutes of Biomedical Sciences, Shanxi University 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Degerman lab, Umeå University 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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.