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
1687 300 5809 1861 241 1 1 9898

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MSH6 515 57 2145 712 52 0 0 3481
MSH2 454 95 1438 417 50 0 1 2454
PMS2 273 50 1217 402 56 0 0 1997
MLH1 370 94 935 319 65 0 0 1783
EPCAM 20 4 56 11 17 0 0 108
EPCAM, MSH2 14 0 4 0 0 0 0 18
EPCAM, MIR559, MSH2 14 0 3 0 0 0 0 17
EPM2AIP1, MLH1 11 0 3 0 0 0 0 14
EPCAM, MIR559 7 0 3 0 0 0 0 10
AIMP2, PMS2 5 0 2 0 0 0 0 7
AKR1C2 4 0 0 0 1 0 0 5
FBXO11, KCNK12, MSH2, MSH2-OT1, MSH6 1 0 1 0 0 0 0 2
FBXO11, MSH6 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1
EPCAM, KCNK12, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1683 300 5809 1861 240 0 0 9891
OMIM 4 0 0 0 0 1 0 5
Mendelics 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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