ClinVar Miner

Variants studied for distal renal tubular acidosis

Included ClinVar conditions (10):
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
80 102 502 66 117 1 814

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
SLC4A1 18 19 175 27 61 1 282
ATP6V0A4 30 42 157 12 30 0 254
ATP6V1B1 27 36 148 27 21 0 242
ATP6V0A4, LOC129389889 2 1 14 0 0 0 16
ATP6V0A4, LOC123956241, TMEM213 0 0 6 0 3 0 9
WDR72 3 2 0 0 0 0 5
ATP6V1B1, LOC129934049 0 0 1 0 2 0 3
ATP6V1C2 0 1 0 0 0 0 1
CCBE1 0 0 1 0 0 0 1
SLC4A2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 36 61 334 47 1 0 478
Illumina Laboratory Services, Illumina 0 2 140 14 107 0 263
Natera, Inc. 8 0 40 4 10 0 62
OMIM 27 0 0 0 0 0 27
Neuberg Centre For Genomic Medicine, NCGM 1 5 16 0 0 0 22
Genome-Nilou Lab 0 0 1 0 20 0 21
Counsyl 1 2 5 4 4 0 16
Revvity Omics, Revvity 7 1 7 0 0 0 15
Yale Center for Mendelian Genomics, Yale University 9 4 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 0 0 0 0 11
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 5 6 0 0 0 0 11
MVZ Medizinische Genetik Mainz 2 3 4 0 0 0 9
3billion, Medical Genetics 4 2 2 0 0 0 8
Mendelics 2 4 0 0 1 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 1 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University 3 0 0 0 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 2 1 0 0 0 3
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 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
Pars Genome Lab 1 0 0 0 1 0 2
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Siriraj Genomics, Faculty of Medicine Siriraj Hospital 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 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.