ClinVar Miner

Variants studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (15):
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
73 12 24 5 35 1 2 147

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ZFPM2 3 0 12 4 18 0 0 36
MAP3K1 6 3 5 1 15 0 0 30
SRY 26 1 1 0 0 0 0 28
NR5A1 18 5 2 0 2 0 0 25
DHH 5 2 2 0 0 0 0 9
NR0B1 6 0 1 0 0 0 0 7
AKR1C2 4 0 0 0 0 0 0 4
CBX2 2 0 1 0 0 0 2 3
SOX9 3 0 0 0 0 0 0 3
AKR1C4 0 0 0 0 0 1 0 1
DMRT1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 10 3 22 5 28 0 0 68
OMIM 54 0 0 0 0 1 0 55
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 7 0 0 7
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
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes,University of Luebeck 2 1 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 2 0 0 0 0 0 0 2
Fulgent Genetics 1 0 0 0 0 0 0 1

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