ClinVar Miner

Variants studied for acute hepatic porphyria

Included ClinVar conditions (14):
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
104 12 168 98 51 2 420

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FECH 18 6 55 46 28 0 148
HMBS 45 4 16 9 4 0 72
ALAD 6 0 41 11 3 0 61
CPOX 2 0 21 21 11 1 55
PPOX 9 1 22 3 1 1 36
UROD 16 0 12 4 0 0 31
DPAGT1, HMBS 0 0 0 4 4 0 8
ALAS2 5 0 0 0 0 0 5
HFE, LOC108783645 1 0 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
CLPX 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 1 157 96 46 0 302
OMIM 90 0 0 0 0 0 90
Mendelics 3 3 3 0 2 0 11
GeneReviews 8 0 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 8 0 8
CSER _CC_NCGL, University of Washington 0 1 3 2 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 2 0 0 0 0 3
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai 2 0 0 0 1 0 3
Baylor Genetics 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Endocrinology Department, First Hospital Of Shanxi Medical University 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Medical Genetics,Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1

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