ClinVar Miner

Variants studied for cholestasis, intrahepatic, of pregnancy, 3

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
16 36 57 5 17 126

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
ABCB4 14 28 55 5 15 112
ABCB11 2 8 1 0 0 11
ABCB4, LOC129998756 0 0 0 0 2 2
ABCB4, LOC129998757 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 45 5 13 63
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 33
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 8 6 0 0 15
OMIM 7 0 0 0 0 7
Baylor Genetics 3 0 3 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 4 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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