ClinVar Miner

Variants studied for cholestasis, progressive familial intrahepatic, 4

Included ClinVar conditions (2):
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 10 2 0 0 34

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TJP2 22 10 2 34

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
The Center for Liver Diseases, Children's Hospital of Fudan University 10 3 0 13
OMIM 7 0 0 7
Baylor Genetics 3 0 1 4
Elsea Laboratory,Baylor College of Medicine 0 2 0 2
Centogene AG - the Rare Disease Company 0 2 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 2
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1

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