ClinVar Miner

Variants studied for 46,XY disorder of sex development due to testicular steroidogenesis defect

Included ClinVar conditions (2):
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 total
15 1 0 0 0 1 17

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic risk factor total
HSD17B3 11 1 0 12
AKR1C2 4 0 0 4
AKR1C4 0 0 1 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic risk factor total
OMIM 14 0 1 15
Illumina Clinical Services Laboratory,Illumina 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1

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