ClinVar Miner

Variants studied for Focal dermal hypoplasia

Coded as:
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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 total
9 3 1 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PORCN 9 3 1 13

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Institute for Human Genetics,University Clinic Freiburg 1 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 1

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