ClinVar Miner

Variants studied for autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Included ClinVar conditions (14):
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
49 9 308 160 39 543

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JUP 8 3 142 55 19 216
DSP 6 1 63 73 10 152
WNT10A 16 3 50 23 5 88
CTSC 15 2 47 6 2 71
COG6 2 0 6 3 3 14
RSPO1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 144 115 11 270
Invitae 10 5 159 45 28 247
OMIM 32 0 0 0 0 32
Fulgent Genetics,Fulgent Genetics 3 1 8 0 0 12
Department of Prosthodontics,Peking University School and Hospital of Stomatology 5 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 1 2 0 0 0 3
GeneReviews 1 0 0 0 1 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
State Key Laboratory Of Oral Diseases,Sichuan University 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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