ClinVar Miner

Variants studied for acidosis disorder

Included ClinVar conditions (4):
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
36 43 338 30 32 468

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC4A4 7 4 180 18 30 235
ATP6V0A4 25 35 120 12 1 186
LOC126807073, SLC4A4 1 1 14 0 1 17
ATP6V0A4, LOC129389889 2 0 14 0 0 16
LOC129992668, SLC4A4 0 0 5 0 0 5
SLC4A1 1 1 2 0 0 4
ATP6V1B1 0 2 1 0 0 3
CA1 0 0 1 0 0 1
HADHB 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 12 31 221 20 3 287
Illumina Laboratory Services, Illumina 0 0 109 12 23 144
OMIM 16 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 0 3 10 0 0 13
Revvity Omics, Revvity 2 1 3 0 0 6
Sydney Genome Diagnostics, Children's Hospital Westmead 1 2 3 0 0 6
Genome-Nilou Lab 0 0 0 0 4 4
Baylor Genetics 1 1 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 2 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 2 1 0 0 3
Mendelics 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
3billion, Medical Genetics 1 0 1 0 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 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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