ClinVar Miner

Variants studied for autoimmune polyendocrinopathy

Included ClinVar conditions (6):
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
72 61 281 39 74 1 512

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
LRBA 12 2 171 19 40 0 241
AIRE 27 47 72 11 22 0 169
STAT1 18 5 23 7 11 1 62
FOXP3 14 7 12 2 1 0 36
LOC108281188, LRBA 1 0 2 0 0 0 3
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2 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 22 16 252 33 71 0 394
Counsyl 10 38 17 3 0 0 68
OMIM 47 0 0 0 0 0 47
Integrated Genetics/Laboratory Corporation of America 4 4 3 3 2 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 1 3 0 0 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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