ClinVar Miner

Variants studied for adrenogenital syndrome

Included ClinVar conditions (12):
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
120 63 168 62 38 1 12 444

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CYP11B1, LOC106799833 12 22 30 14 8 0 6 82
NR3C1 8 0 47 20 0 0 0 75
CYP11B1 10 8 15 20 18 0 2 69
STAR 15 20 30 1 2 0 0 65
CYP21A2, LOC106780800 22 5 3 3 5 0 1 38
HSD3B2 10 1 18 4 1 0 0 34
CYP21A2 20 1 1 0 0 0 0 22
CYP17A1 5 1 11 0 2 0 2 21
POR 7 3 4 0 0 0 0 13
H6PD 5 0 1 0 0 0 0 6
CYP17A1, LOC110408762 0 0 4 0 1 0 0 5
AKR1C2 4 0 0 0 0 0 0 4
HSD11B1 2 0 1 0 0 0 0 3
CYP11B1, LOC110673972 0 2 0 0 0 0 0 2
LOC108863620, STAR 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 0 1 1
HSD3B2, LOC109029530 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 2 1 125 59 30 0 0 217
Counsyl 26 48 26 0 0 0 0 100
OMIM 91 0 2 0 0 1 0 94
Integrated Genetics/Laboratory Corporation of America 0 6 11 3 2 0 3 25
GeneReviews 12 0 0 0 5 0 0 17
Fulgent Genetics 10 1 1 0 0 0 0 12
Invitae 2 1 3 0 0 0 0 6
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 0 6 6
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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1

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