ClinVar Miner

Variants studied for acidosis disorder

Included ClinVar conditions (5):
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
21 10 172 14 54 266

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC4A4 4 1 109 12 25 149
ATP6V0A4 16 6 52 2 26 99
ATP6V0A4, TMEM213 0 0 6 0 3 9
SLC4A1 1 1 2 0 0 4
ATP6V1B1 0 1 1 0 0 2
CA1 0 0 1 0 0 1
HADHB 0 0 1 0 0 1
MT-ATP6, MT-ATP8 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 2 164 14 52 232
OMIM 14 0 0 0 0 14
Mendelics 1 3 0 0 3 7
Sydney Genome Diagnostics,Children's Hospital Westmead 1 2 3 0 0 6
Baylor Genetics 2 0 1 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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