ClinVar Miner

Variants studied for bilirubin metabolism disease

Included ClinVar conditions (28):
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 affects association other total
160 44 610 83 186 5 1 2 1038

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association other total
ABCB11 18 8 96 15 26 0 0 0 155
ABCC2 14 2 94 16 27 0 0 0 150
SLCO1B3, SLCO1B3-SLCO1B7 3 0 75 5 25 0 0 0 104
ATP8B1, LOC100505549 2 3 67 6 25 0 0 0 103
SLCO1B1 8 0 57 9 25 0 0 0 94
ABCB4 16 7 50 6 14 0 0 0 89
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 33 7 49 8 10 5 0 2 88
VPS33B 13 2 40 8 14 0 1 0 78
ATP8B1 12 2 45 5 9 0 0 0 71
UTP4 0 0 28 4 8 0 0 0 39
TJP2 22 10 2 0 0 0 0 0 34
VIPAS39 9 2 4 0 0 0 0 0 15
SLCO1B3 3 0 3 1 3 0 0 0 10
NR1H4 4 1 0 0 0 0 0 0 5
F12, SLC34A1 1 0 0 0 0 0 0 0 1
SLCO1B1, SLCO1B3, SLCO1B7 1 0 0 0 0 0 0 0 1
UGT1A1 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association other total
Illumina Clinical Services Laboratory,Illumina 6 3 531 76 171 0 0 0 778
OMIM 82 0 1 0 0 5 0 0 83
Baylor Genetics 23 2 20 0 0 0 0 0 45
Natera, Inc. 1 1 19 8 14 0 0 0 43
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 16 0 21 0 0 0 38
Mendelics 8 11 6 0 6 0 0 0 31
Genetic Services Laboratory, University of Chicago 7 3 11 0 0 0 0 2 23
Fulgent Genetics,Fulgent Genetics 1 4 13 0 0 0 0 0 18
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 7 0 0 1 6 0 0 0 14
The Center for Liver Diseases, Children's Hospital of Fudan University 10 3 0 0 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 5 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 3 4 0 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 3 0 0 0 0 0 0 7
GeneReviews 5 0 0 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 1 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 2 0 0 0 0 0 4
Ege University Pediatric Genetics,Ege University 3 0 1 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 0 4
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 0 0 0 0 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 0 0 2
FirmaLab,FirmaLab 1 0 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Department of Pediatrics,1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 0 0 1
Research Center for Immunodeficiencies,Tehran University of Medical Sciences 0 0 0 0 0 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 0 1
Liver Center,Tokai University School of Medicine 1 0 0 0 0 0 0 0 1

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