ClinVar Miner

Variants studied for MHC class I deficiency

Included ClinVar conditions (1):
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
36 8 527 396 88 1 1046

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TAP1 17 3 156 151 22 1 343
TAP2 16 4 163 117 41 0 339
TAPBP 1 0 160 92 16 0 268
LOC107648851, TAP2 2 1 27 23 6 0 59
PSMB8, TAP1 0 0 20 13 3 0 36
PSMB8, TAP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 4 514 392 85 0 1026
Fulgent Genetics, Fulgent Genetics 0 0 4 8 0 0 12
Genome-Nilou Lab 0 0 0 0 11 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 8 0 1 0 10
Baylor Genetics 0 0 6 0 0 0 6
Revvity Omics, Revvity 1 0 5 0 0 0 6
OMIM 4 0 0 0 0 0 4
Mendelics 0 0 0 0 3 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1

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