ClinVar Miner

Variants studied for 46,XX disorder of gonadal development

Included ClinVar conditions (13):
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 total
29 6 3 1 0 37

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FSHR 6 6 0 0 11
BMP15 5 0 1 0 6
SOX9 5 0 0 0 5
MCM9 3 0 0 0 3
MRPS22 2 0 0 0 2
NR5A1 2 0 1 0 2
SOHLH1 2 0 0 0 2
WNT4 1 0 1 0 2
NRXN1 0 0 0 1 1
NUP107 1 0 0 0 1
PSMC3IP 1 0 0 0 1
SRY 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 26 0 0 0 26
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 6
Molecular Development Laboratory,Murdoch Childrens Research Institute 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 1
David Buchner Laboratory,Case Western Reserve University 1 0 0 0 1

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