ClinVar Miner

Variants studied for Congenital adrenal hyperplasia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
49 49 17 3 3 3 124

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP11B1, LOC106799833 7 15 5 0 1 0 28
CYP17A1 11 7 2 0 0 0 20
CYP21A2, LOC106780800 6 9 2 1 0 0 18
HSD3B2 10 3 1 0 0 0 14
CYP11B1 2 4 1 2 1 2 12
CYP21A2 7 3 0 0 0 0 10
POR 4 6 0 0 0 0 10
STAR 0 0 3 0 1 0 4
CYP17A1, LOC110408762 0 0 2 0 0 0 2
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1 2
HSD3B2, LOC109029530 1 0 1 0 0 0 2
CYP11A1 0 1 0 0 0 0 1
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 48 49 7 1 2 3 110
Illumina Laboratory Services, Illumina 0 0 10 2 1 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1

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