ClinVar Miner

Variants studied for androgen insensitivity syndrome

Included ClinVar conditions (5):
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
187 58 101 256 129 1 708

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AR 171 58 95 243 110 1 656
AR, LOC109504725 16 0 5 13 18 0 50
CDC45 0 0 1 0 0 0 1
GLI2 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 106 20 77 250 124 0 577
OMIM 44 0 0 0 0 0 44
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 37 0 5 0 0 0 42
Fulgent Genetics, Fulgent Genetics 1 0 4 6 1 0 12
3billion 2 6 4 0 0 0 12
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 7 2 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 0 0 0 0 8
Clinical Biochemistry Laboratory, Health Services Laboratory 1 4 0 1 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 5
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 4 0 0 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 1 0 0 0 5
Human Developmental Genetics, Institut Pasteur 5 0 0 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 2 1 0 0 0 4
Mendelics 0 0 1 0 3 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 3 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Department of Medical Genetics, Hue University of Medicine and Pharmacy 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Reproductive and Stem Cell Engineering, Central South University 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Family Health Institute, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Department of Obstetrics and Gynaecology, The Second Hospital of Hebei Medical University 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1

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