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
29 15 149 29 32 247

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 5 2 107 18 30 158
ATP6V0A4 21 11 32 11 1 73
LOC126807073, SLC4A4 1 0 3 0 1 5
SLC4A1 1 1 2 0 0 4
ATP6V1B1 0 1 2 0 0 3
ATP6V0A4, LOC129389889 1 0 0 0 0 1
CA1 0 0 1 0 0 1
HADHB 0 0 1 0 0 1
LOC129992668, SLC4A4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 109 12 23 144
Fulgent Genetics, Fulgent Genetics 4 4 24 19 3 54
OMIM 16 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 0 2 10 0 0 12
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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 1 0 1 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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