ClinVar Miner

Variants studied for 46,XX disorder of sex development

Included ClinVar conditions (32):
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
162 57 134 40 22 8 406

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NR3C1 8 0 47 20 0 0 75
CYP19A1, MIR4713HG, PIRC66 9 0 26 8 8 0 51
CYP11B1, LOC106799833 12 19 18 0 0 6 49
HSD17B4 8 4 24 9 8 1 49
CYP21A2, LOC106780800 22 5 1 0 5 1 33
CYP21A2 20 1 1 0 0 0 22
CYP11B1 10 6 5 0 0 0 20
LARS2 8 3 1 1 0 0 13
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 1 0 0 0 6
CYP19A1 1 0 3 1 0 0 5
SOX9 5 0 0 0 0 0 5
TWNK 5 0 0 0 0 0 5
WNT4 4 0 1 0 0 0 5
CLPP 4 0 0 0 0 0 4
MCM9 3 0 0 0 0 0 3
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
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, TNXB 0 0 0 0 1 0 1
ERAL1 1 0 0 0 0 0 1
NRXN1 0 0 0 1 0 0 1
NUP107 1 0 0 0 0 0 1
PSMC3IP 1 0 0 0 0 0 1
SRY 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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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
GeneReviews 12 0 0 0 5 0 17
Invitae 4 2 3 1 3 0 13
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 3 0 0 0 0 5
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
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
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
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
Molecular Development Laboratory,Murdoch Childrens Research Institute 2 0 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,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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