ClinVar Miner

Variants studied for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis 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 not provided total
672 137 2649 834 192 1 1 4486

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
MSH6 234 20 972 327 44 0 0 1597
MSH2 148 37 669 190 39 0 1 1084
PMS2 120 31 586 159 40 0 0 936
MLH1 144 49 416 158 58 0 0 825
EPCAM 4 0 1 0 11 0 0 16
EPCAM, MIR559, MSH2 5 0 3 0 0 0 0 8
EPM2AIP1, MLH1 7 0 0 0 0 0 0 7
EPCAM, MIR559 4 0 1 0 0 0 0 5
AKR1C2 4 0 0 0 0 0 0 4
EPCAM, MSH2 2 0 1 0 0 0 0 3
AKR1C4 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 668 137 2649 834 192 0 0 4480
OMIM 4 0 0 0 0 1 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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