ClinVar Miner

Variants studied for autosomal dominant pseudohypoaldosteronism type 1

Included ClinVar conditions (2):
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 total
23 11 226 84 70 410

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR3C2 23 9 139 26 40 233
KLHL3 0 0 48 26 12 86
CUL3 0 1 28 28 16 73
LOC129993215, NR3C2 0 0 6 2 1 9
STX16, STX16-NPEPL1 0 0 5 2 1 8
DCLK2, NR3C2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 150 77 68 296
Fulgent Genetics, Fulgent Genetics 3 0 79 7 2 91
OMIM 19 0 0 0 0 19
Genome-Nilou Lab 0 0 0 0 4 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Ben Taub Pediatrics - Newborn, Baylor College of Medicine 0 1 0 0 0 1

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