ClinVar Miner

Variants studied for 46,XX disorder of sex development

Included ClinVar conditions (33):
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
171 71 169 44 51 8 494

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP21A2, LOC106780800 31 14 28 5 31 1 107
NR3C1 8 0 47 20 1 0 75
HSD17B4 11 4 26 8 6 1 53
CYP11B1, LOC106799833 14 19 18 0 0 6 51
CYP19A1, MIR4713HG, PIRC66 9 0 26 8 8 0 51
CYP21A2 16 1 1 0 2 0 19
CYP11B1 8 6 5 0 0 0 18
LARS2 8 4 3 1 0 0 16
POR 7 3 4 0 0 0 13
FSHR 6 6 0 0 0 0 11
HSD3B2 10 1 0 0 0 0 11
HARS2 2 7 1 0 0 0 9
BMP15 5 0 2 0 1 0 7
TWNK 5 1 1 0 0 0 7
CLPP 4 2 0 0 0 0 6
CYP19A1 1 0 3 1 0 0 5
SOX9 5 0 0 0 0 0 5
WNT4 4 0 1 0 0 0 5
MCM9 3 0 1 0 0 0 4
CYP11B1, LOC110673972 0 2 0 0 0 0 2
MRPS22 2 0 0 0 0 0 2
NR5A1 2 0 1 0 0 0 2
PSMC3IP 1 0 1 0 0 0 2
RSPO1 2 0 0 0 0 0 2
SOHLH1 2 0 0 0 0 0 2
CLDN14, SGO2 1 0 0 0 0 0 1
CYP21A2, LOC106780800, LOC110631417 0 0 0 0 1 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 0 1
ERAL1 1 0 0 0 0 0 1
MLX, PSMC3IP 1 0 0 0 0 0 1
NRXN1 0 0 0 1 0 0 1
NUP107 1 0 0 0 0 0 1
PRORP 0 1 0 0 0 0 1
SRY 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 105 37 13 0 156
OMIM 129 0 0 0 0 0 129
Counsyl 22 28 20 0 0 0 70
Division Human Genetics,Medical University Innsbruck 4 5 23 5 26 0 63
Invitae 8 2 6 0 1 0 17
GeneReviews 12 0 0 0 5 0 17
Mendelics 2 0 6 0 5 0 13
Fulgent Genetics,Fulgent Genetics 7 2 3 0 0 0 12
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 6
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 6 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 2 0 0 0 5
Molecular Genetics Laboratory,University Hospital Copenhagen 0 5 0 0 0 0 5
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Department of Pediatric Endocrinology,Cukurova University Medical Faculty 0 3 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 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
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Laboratory of Molecular Genetics,National Institutes of Health 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 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
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 1 0 0 0 0 0 1
David Buchner Laboratory,Case Western Reserve University 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Dept. of Evolution and Genomic Sciences,University of Manchester 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1

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