ClinVar Miner

Variants studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (18):
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
122 32 234 279 170 1 2 814

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NR0B1 25 4 33 141 37 0 0 233
ZFPM2 4 1 48 53 34 0 0 134
MAP3K1 9 4 27 42 38 0 0 114
DHH 11 2 38 11 9 0 0 69
LOC126860469, ZFPM2 0 0 38 20 11 0 0 69
NR5A1 25 15 8 0 0 0 0 47
SRY 29 3 11 1 1 0 0 45
LOC129993918, MAP3K1 0 0 12 6 15 0 0 32
DHX37 5 2 4 1 15 0 0 26
LOC126807392, MAP3K1 0 0 6 3 6 0 0 15
AKR1C2 3 0 2 0 1 0 0 6
CBX2 2 0 2 1 0 0 2 5
GATA4 1 0 0 0 3 0 0 4
​intergenic 2 0 0 0 0 0 0 2
DMRT1 0 1 1 0 0 0 0 2
AKR1C2, LOC101928051 1 0 0 0 0 0 0 1
AKR1C4 0 0 0 0 0 1 0 1
AR 1 0 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
FANCA, SPIRE2 0 0 1 0 0 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 0 0 1
LOC108004545, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021843, LOC126862629, LOC126862630, LOC126862631, LOC130061541, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 0 1
LOC108004545, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 0 1
LOC108178989, SRY 0 0 1 0 0 0 0 1
SOX9 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 36 7 178 267 143 0 0 631
OMIM 65 0 0 0 0 1 0 66
Illumina Laboratory Services, Illumina 0 0 24 1 4 0 0 29
Fulgent Genetics, Fulgent Genetics 1 0 5 10 2 0 0 18
Genome-Nilou Lab 0 0 0 0 16 0 0 16
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 0 0 14
3billion 3 1 6 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 6 3 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 1 0 0 6
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 5 1 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 6 0 0 6
Mendelics 1 0 1 1 2 0 0 5
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 0 0 4
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 3 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 2 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 2 1 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 2 0 0 0 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Prenatal Diagnosis Centre, Shenzhen Maternity and Child Healthcare Hospital 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 0 1

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