ClinVar Miner

Variants studied for autoimmune polyendocrinopathy

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
133 90 747 321 122 2 1369

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRBA 31 12 462 149 59 0 705
AIRE 53 61 175 122 36 1 416
STAT1 22 9 63 32 17 1 140
FOXP3 22 7 42 18 10 0 97
LRBA, MAB21L2 3 0 1 0 0 0 4
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 1 0 1 0 0 0 2
CCDC22, FOXP3 0 0 1 0 0 0 1
IL21R 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 83 32 673 312 112 0 1212
Natera, Inc. 5 4 43 11 17 0 80
Counsyl 8 38 17 3 0 0 66
OMIM 48 0 0 0 0 0 48
Baylor Genetics 1 0 20 0 0 0 21
Integrated Genetics/Laboratory Corporation of America 7 4 3 2 2 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 2 8 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 0 0 0 10
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 2 1 3 2 0 0 8
Mendelics 2 2 2 0 1 0 7
Myriad Women's Health, Inc. 3 4 0 0 0 0 7
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Illumina Clinical Services Laboratory,Illumina 0 1 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
LACE Laboratorios 0 1 0 0 0 0 1
Laboratory of Transmission, Control and Immunobiology of Infections,Institut Pasteur de Tunis 1 0 0 0 0 0 1

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