ClinVar Miner

Variants studied for combined immunodeficiency due to CRAC channel dysfunction

Included ClinVar conditions (7):
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
26 14 569 342 42 4 986

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
STIM1 17 7 285 211 29 2 544
ORAI1 4 7 97 61 8 1 176
LOC130008987, ORAI1 4 0 114 47 3 1 167
LOC124418421, STIM1 0 0 69 21 2 0 92
LOC130005165, STIM1 0 0 3 2 0 0 5
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 1
PGAP2, RHOG, STIM1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 14 557 340 41 0 970
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 6 3 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
New York Genome Center 0 0 5 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Baylor Genetics 1 0 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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