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
100 8 165 97 47 2 413

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 17 3 55 46 26 0 145
HMBS 43 3 15 8 3 0 70
ALAD 6 0 41 11 3 0 61
CPOX 1 0 21 21 11 1 54
PPOX 10 1 21 3 0 1 36
UROD 15 0 11 4 0 0 30
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: 21
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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
GeneReviews 9 0 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 8 0 8
CSER_CC_NCGL; University of Washington Medical Center 0 1 3 2 0 0 6
Fulgent Genetics 1 0 2 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 0 0 0 0 3
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,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
Center of Endocrinoloy,The First Hospital of Shanxi Medical University 1 0 0 0 0 0 1
Medical Genetics,Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 0 1

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