ClinVar Miner

Variants studied for MHC class I 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 total
14 2 238 99 52 401

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 total
TAP2 4 2 76 33 25 139
TAP1 6 0 76 33 17 132
TAPBP 2 0 61 22 8 91
LOC107648851, TAP2 0 0 12 3 1 16
PSMB8, TAP1 0 0 9 4 1 14
B2M 2 0 4 4 0 9

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 1 233 99 48 388
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 6 0 1 8
OMIM 6 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 5
Mendelics 0 0 0 0 3 3

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