ClinVar Miner

Variants studied for pseudohypoaldosteronism

Included ClinVar conditions (19):
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
140 68 2237 891 361 11 3514

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WNK1 36 13 1200 699 129 2 1989
WNK4 5 1 175 43 49 8 257
NR3C2 24 9 139 26 40 0 234
KLHL3 30 8 150 30 46 0 228
SCNN1A 16 9 160 16 13 0 208
SCNN1B 10 15 143 21 6 0 191
CUL3 15 8 104 31 43 0 177
SCNN1G 3 3 130 12 28 0 172
LOC126862568, WNK4 0 0 14 2 1 0 16
LOC129993215, NR3C2 0 0 6 2 1 0 9
LTBR, SCNN1A 0 0 3 4 2 0 9
STX16, STX16-NPEPL1 0 0 5 2 1 0 8
CUL3, LOC129935709 0 0 5 0 1 0 6
LOC130007151, WNK1 1 0 2 0 0 1 3
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 0 2
ARHGAP10, NR3C2 0 1 0 0 0 0 1
DCLK2, NR3C2 0 1 0 0 0 0 1
LOC130007151, LOC130007152, WNK1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 35 9 977 666 65 0 1752
Fulgent Genetics, Fulgent Genetics 15 33 967 142 12 0 1169
Illumina Laboratory Services, Illumina 0 1 501 152 322 0 923
OMIM 57 0 0 0 0 0 57
Richard Lifton Laboratory, Yale University School of Medicine 39 0 0 0 0 0 39
Genome-Nilou Lab 0 0 0 0 17 0 17
Johns Hopkins Genomics, Johns Hopkins University 1 1 8 1 1 0 12
GeneReviews 0 0 0 0 0 10 10
Baylor Genetics 1 3 3 0 0 0 7
Mendelics 2 2 1 0 2 0 7
Revvity Omics, Revvity 0 1 4 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
3billion, Medical Genetics 1 0 2 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 2 0 1 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Ben Taub Pediatrics - Newborn, Baylor College of Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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