ClinVar Miner

Variants studied for acute intermittent porphyria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
43 3 15 12 7 78

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HMBS 43 3 15 8 3 70
DPAGT1, HMBS 0 0 0 4 4 8

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 41 0 0 0 0 41
Illumina Clinical Services Laboratory,Illumina 1 0 10 11 6 28
CSER_CC_NCGL; University of Washington Medical Center 0 1 3 2 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Center of Endocrinoloy,The First Hospital of Shanxi Medical University 1 0 0 0 0 1
Medical Genetics,Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 1

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