ClinVar Miner

Variants studied for GABA aminotransaminase deficiency

Included ClinVar conditions (2):
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
21 23 320 291 70 2 696

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABAT 21 23 313 291 70 1 688
ABAT, PMM2, TMEM186 0 0 4 0 0 1 5
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 0 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 not provided total
Invitae 6 9 234 276 30 0 555
Illumina Laboratory Services, Illumina 0 0 90 13 50 0 153
Baylor Genetics 1 10 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 9 0 9
OMIM 8 0 0 0 0 0 8
Elsea Laboratory, Baylor College of Medicine 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 3 0 0 6
Bonnen Lab, Baylor College of Medicine 5 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 1 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 1

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