ClinVar Miner

Variants studied for adrenogenital syndrome

Included ClinVar conditions (13):
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 risk factor not provided total
133 79 485 80 109 1 13 843

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
POR 8 3 110 14 18 0 0 139
NR3C1 8 0 100 22 7 0 0 136
CYP21A2, LOC106780800 30 14 31 8 32 0 1 112
CYP11B1, LOC106799833 17 26 48 8 9 0 6 103
CYP11B1 8 8 54 12 19 0 2 98
STAR 15 21 60 6 4 0 0 98
HSD3B2 11 1 31 9 10 0 0 53
CYP17A1 6 2 34 0 2 0 3 44
CYP21A2 16 1 1 0 2 0 0 19
H6PD 5 0 2 0 1 0 0 8
CYP17A1, LOC110408762 0 0 5 0 1 0 0 6
AKR1C2 4 0 0 0 1 0 0 5
CYP21A2, LOC106780800, TNXB 3 0 0 0 1 0 1 4
HSD11B1 2 0 1 0 1 0 0 4
LOC108863620, STAR 0 0 3 1 0 0 0 4
POR, TMEM120A 0 0 3 0 0 0 0 3
CYP11B1, LOC110673972 0 2 0 0 0 0 0 2
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 1 0 0 2
HSD3B2, LOC109029530 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 395 43 52 0 0 494
OMIM 91 0 2 0 0 1 0 94
Counsyl 18 48 26 0 0 0 0 92
Division of Human Genetics,Medical University Innsbruck 4 5 23 5 26 0 0 63
Natera, Inc. 6 1 26 14 9 0 0 56
Invitae 3 1 4 10 8 0 0 26
Integrated Genetics/Laboratory Corporation of America 0 7 9 3 2 0 3 24
GeneReviews 12 0 0 0 5 0 0 17
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 0 14
Mendelics 2 0 4 0 6 0 0 12
Fulgent Genetics,Fulgent Genetics 10 1 1 0 0 0 0 12
Myriad Women's Health, Inc. 8 3 0 0 0 0 0 11
Pecori Giraldi Lab,University of Milan 0 0 0 2 6 0 0 8
Baylor Genetics 3 0 4 0 0 0 0 7
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 0 6 6
LifeCell International Pvt. Ltd 4 1 1 0 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 2 1 0 0 0 0 4
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 1 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Internal Medicine,University of Pretoria 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 0 0 1

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