ClinVar Miner

Variants studied for 46,XX disorder of sex development induced by androgens excess

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
107 46 422 63 115 7 732

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NR3C1 8 0 99 22 7 0 135
POR 8 3 109 11 17 0 135
CYP21A2, LOC106780800 29 14 28 5 31 1 105
CYP11B1 8 6 53 10 18 0 93
CYP11B1, LOC106799833 15 19 43 8 8 6 91
CYP19A1, MIR4713HG, PIRC66 9 0 52 7 22 0 90
HSD3B2 10 1 26 0 6 0 43
CYP21A2 16 1 1 0 2 0 19
CYP19A1 1 0 5 0 1 0 7
CYP21A2, LOC106780800, TNXB 3 0 0 0 1 0 4
POR, TMEM120A 0 0 3 0 0 0 3
CYP11B1, LOC110673972 0 2 0 0 0 0 2
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 0 1 0 1 0 2
CYP19A1, LOC110386947 0 0 1 0 0 0 1
CYP21A2, LOC106780800, LOC110631417 0 0 0 0 1 0 1
HSD3B2, LOC109029530 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 371 46 69 0 487
OMIM 76 0 0 0 0 0 76
Division of Human Genetics,Medical University Innsbruck 4 5 23 5 26 0 63
Counsyl 14 28 20 0 0 0 62
Invitae 3 1 3 9 8 0 24
GeneReviews 12 0 0 0 5 0 17
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 14
Mendelics 2 0 4 0 4 0 10
Fulgent Genetics,Fulgent Genetics 7 1 1 0 0 0 9
Myriad Women's Health, Inc. 8 0 0 0 0 0 8
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 6 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Department of Pediatric Endocrinology,Cukurova University Medical Faculty 0 3 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 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 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 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 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Internal Medicine,University of Pretoria 1 0 0 0 0 0 1

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