ClinVar Miner

Variants studied for cholestasis

Included ClinVar conditions (33):
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 not provided total
204 103 585 181 160 1 1148

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP27A1 78 42 100 106 21 1 291
ABCB11 20 14 97 15 26 0 163
ABCB4 25 26 55 7 15 0 114
AKR1D1 7 2 69 11 20 0 109
ATP8B1, LOC100505549 3 3 67 6 25 0 104
BAAT 0 0 49 10 22 0 81
AMACR, C1QTNF3-AMACR 2 0 56 11 11 0 78
ATP8B1 13 2 45 5 9 0 71
UTP4 0 0 28 4 8 0 39
TJP2 23 10 3 0 0 0 36
CYP7B1 2 0 9 0 0 0 11
USP53 8 2 0 0 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 3 0 9
​intergenic 7 0 0 0 0 0 7
HSD3B7 6 0 1 0 0 0 7
NR1H4 4 1 0 0 0 0 5
ACOX2 2 0 2 0 0 0 4
SLC10A1 3 0 1 0 0 0 4
EPHX1 0 0 3 0 0 0 3
ABCD3 1 0 0 0 0 0 1
RASL12, SLC51B 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 7 3 464 75 136 0 683
Invitae 46 4 31 95 18 0 194
Natera, Inc. 11 1 34 17 18 0 81
OMIM 75 0 3 0 0 0 78
GeneReviews 67 0 0 0 7 0 74
Counsyl 8 23 28 1 0 0 60
Baylor Genetics 22 2 22 0 0 0 46
Mendelics 9 13 7 1 5 0 35
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 0 33
The Center for Liver Diseases, Children's Hospital of Fudan University 18 5 0 0 0 0 23
Fulgent Genetics,Fulgent Genetics 3 3 10 0 0 0 16
Myriad Women's Health, Inc. 2 8 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 4 0 0 0 8
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 3 1 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 4 0 0 5
Centogene AG - the Rare Disease Company 1 3 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 1 0 0 0 1
Gregorio Maranon General University Hospital,Gregorio Maranon Health Research Institute 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1

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