ClinVar Miner

Variants studied for adrenal gland hyperfunction

Included ClinVar conditions (7):
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
20 2 91 84 58 254

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNJ5 5 0 59 21 18 103
CYP11B2, LOC106799834 0 0 14 28 16 58
CYP11B1 1 0 10 20 17 48
CYP11B1, LOC106799833 1 1 5 14 7 28
CLCN2 11 0 1 0 0 12
CACNA1D 2 1 2 0 0 4
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 88 84 58 230
OMIM 14 0 0 0 0 14
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5 0 0 0 0 5
Fulgent Genetics 1 1 1 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1

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