ClinVar Miner

Variants studied for MHC class I deficiency

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 not provided total
44 8 550 458 89 1 1140

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TAP1 22 3 157 174 23 1 373
TAP2 17 4 162 132 41 0 354
TAPBP 1 0 183 112 16 0 311
LOC107648851, TAP2 2 1 26 25 6 0 60
PSMB8, TAP1 1 0 20 15 3 0 39
PSMB8, TAP2 1 0 1 0 0 0 2
B3GALT4, COL11A2, CUTA, DAXX, HSD17B8, KIFC1, MIR219A1, PFDN6, PHF1, RGL2, RING1, RPS18, RXRB, SLC39A7, SYNGAP1, TAPBP, VPS52, WDR46, ZBTB22 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 38 4 537 454 86 0 1119
Fulgent Genetics, Fulgent Genetics 0 0 5 8 0 0 13
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
OMIM 6 0 0 0 0 0 6
Baylor Genetics 0 0 6 0 0 0 6
Revvity Omics, Revvity 1 0 5 0 0 0 6
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
New York Genome 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, Medical Genetics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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