ClinVar Miner

Variants studied for proteinuria

Included ClinVar conditions (16):
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 risk factor total
26 23 34 8 5 3 99

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 risk factor total
PIGA 12 11 5 1 0 0 29
CLCN5 6 5 6 5 1 0 23
PIGT 0 0 4 1 4 3 12
CLCN5, LOC126863258 2 1 5 0 0 0 8
NPHS1 0 0 4 1 0 0 5
COL4A5 1 1 1 0 0 0 3
APOL1 2 0 0 0 0 0 2
CLCNKB, LOC106501713 0 1 1 0 0 0 2
COL4A4 0 2 0 0 0 0 2
INF2 0 1 1 0 0 0 2
NPHS2 1 0 1 0 0 0 2
PLCE1 0 0 2 0 0 0 2
AXDND1, NPHS2 0 0 1 0 0 0 1
COL4A3, MFF-DT 1 0 0 0 0 0 1
CUBN 0 1 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 1
MYH9 0 0 1 0 0 0 1
PKD1 0 0 1 0 0 0 1
WT1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Fulgent Genetics, Fulgent Genetics 3 3 11 7 1 0 25
OMIM 14 0 0 0 0 1 15
Blueprint Genetics 1 0 8 1 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 3 0 0 0 10
Pangenia Genomics, Pangenia Inc. 0 5 2 0 0 0 7
Genome-Nilou Lab 0 0 0 0 4 0 4
Mendelics 2 1 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 3 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 2 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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