ClinVar Miner

Variants studied for autosomal dominant isolated diffuse palmoplantar keratoderma

Included ClinVar conditions (3):
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
22 1 67 23 25 137

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KRT9 11 0 54 16 5 85
KRT1 4 0 12 7 20 43
DSG1 7 1 0 0 0 8
KRT16 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 64 23 25 112
OMIM 22 0 0 0 0 22
Mendelics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 1

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