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
1167 219 4134 1191 232 1 1 6943

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 372 42 1536 458 50 0 0 2458
MSH2 290 59 1051 247 49 0 1 1696
PMS2 198 41 858 265 55 0 0 1416
MLH1 244 76 665 220 60 0 0 1265
EPCAM 14 1 7 1 17 0 0 40
EPCAM, MIR559, MSH2 14 0 3 0 0 0 0 17
EPCAM, MSH2 11 0 4 0 0 0 0 15
EPM2AIP1, MLH1 11 0 3 0 0 0 0 14
EPCAM, MIR559 7 0 3 0 0 0 0 10
AKR1C2 4 0 0 0 1 0 0 5
AIMP2, PMS2 3 0 1 0 0 0 0 4
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
FBXO11, KCNK12, 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 1163 219 4134 1191 231 0 0 6936
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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