ClinVar Miner

Variants from The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University

Location: China  Primary collection method: clinical testing
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
25 5 0 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic total
TJP2 10 3 13
USP53 8 2 10
ATP8B1 2 0 2
ATP8B1, LOC126862761 2 0 2
COG6 2 0 2
FAM13A, JAG1 1 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic total
Cholestasis, progressive familial intrahepatic, 4 10 3 13
Cholestasis 8 2 10
Progressive familial intrahepatic cholestasis type 1 4 0 4
COG6-ongenital disorder of glycosylation 2 0 2
Alagille syndrome due to a JAG1 point mutation 1 0 1
Cholestasis, progressive familial intrahepatic, (PFIC4-like) 1 0 1

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