ClinVar Miner

Variants studied for idiopathic nephrotic syndrome

Included ClinVar conditions (31):
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 likely risk allele risk factor not provided total
224 215 1340 980 408 1 4 22 2985

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor not provided total
INF2 22 19 497 670 147 0 0 1 1258
PAX2 28 24 144 100 18 0 0 0 306
PLCE1 22 10 125 20 25 0 0 0 196
TRPC6 10 14 92 14 36 0 0 0 158
WT1 13 13 75 28 15 0 0 0 139
NPHS2 40 56 37 11 10 0 0 0 132
CD2AP 4 4 67 19 31 0 0 0 123
ACTN4 5 7 31 27 40 0 0 0 100
MYO1E 5 2 35 25 6 0 0 1 73
LOC107982234, WT1 2 2 53 9 7 0 0 0 69
AXDND1, NPHS2 15 29 25 5 8 0 0 0 68
ANLN 2 0 19 6 24 0 0 1 51
COQ8B 16 9 15 2 3 0 0 11 42
CRB2 6 6 20 6 1 0 0 0 38
COQ6, ENTPD5 11 4 14 2 4 0 0 8 35
NOC3L, PLCE1 1 1 19 6 7 0 0 0 33
NUP93 6 5 15 2 5 0 0 0 31
APOL1 0 0 7 11 0 1 4 0 22
PTPRO 2 0 10 7 2 0 0 0 21
NUP107 5 4 5 1 3 0 0 0 16
NUP205 1 1 7 1 5 0 0 0 15
CD2AP, CD2AP-DT, LOC129996604 0 0 5 0 5 0 0 0 10
EMP2 3 1 3 0 1 0 0 0 8
ARHGDIA 3 1 2 0 1 0 0 0 7
INF2, LOC130056630 0 0 3 3 1 0 0 0 7
COQ6 1 1 1 2 1 0 0 0 5
INF2, LOC130056627 0 0 2 0 1 0 0 0 3
LOC110120845, PAX2 0 1 1 0 0 0 0 0 2
LOC112272600, MYO1E 0 0 1 1 0 0 0 0 2
NPHS1 0 1 1 0 0 0 0 0 2
ACTN4, LOC130064361 0 0 0 0 1 0 0 0 1
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42 0 0 1 0 0 0 0 0 1
ADSS1, INF2 0 0 1 0 0 0 0 0 1
ARHGAP24 0 0 1 0 0 0 0 0 1
ARHGDIA, LOC130061973 0 0 1 0 0 0 0 0 1
ARHGDIA, LOC130061974 0 0 1 0 0 0 0 0 1
BMP7 0 0 1 0 0 0 0 0 1
FAT1 0 0 1 0 0 0 0 0 1
HIF1AN, NDUFB8, PAX2 1 0 0 0 0 0 0 0 1
LDHAL6B, MYO1E 0 0 0 1 0 0 0 0 1
LOC126861467, PTPRO 0 0 0 1 0 0 0 0 1
LOC130004381, PLCE1 0 0 1 0 0 0 0 0 1
SYNPO 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 86
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 12 546 743 131 0 0 0 1471
Illumina Laboratory Services, Illumina 3 3 373 61 193 0 0 0 633
Fulgent Genetics, Fulgent Genetics 43 17 247 235 21 0 0 0 563
Genome-Nilou Lab 11 26 13 14 129 0 0 0 193
Baylor Genetics 38 31 32 0 0 0 0 0 101
OMIM 86 0 0 0 0 0 2 0 88
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 22 11 49 0 0 0 0 0 82
Counsyl 8 30 20 2 0 0 0 0 60
Precision Medicine Center, Zhengzhou University 14 20 17 0 0 0 0 0 51
MVZ Medizinische Genetik Mainz 2 10 28 0 0 0 0 0 40
Revvity Omics, Revvity 9 6 21 0 0 0 0 0 36
3billion 13 11 10 2 0 0 0 0 36
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 21 2 0 0 0 0 31
Neuberg Centre For Genomic Medicine, NCGM 5 9 16 0 0 0 0 0 30
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 5 17 0 0 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 7 0 0 0 0 0 0 27
GeneReviews 0 0 0 0 0 0 0 18 18
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 7 0 0 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 4 0 11 0 0 0 0 0 15
Molecular Biology Laboratory, Fundació Puigvert 6 9 0 0 0 0 0 0 15
Athena Diagnostics 0 0 0 0 14 0 0 0 14
Myriad Genetics, Inc. 4 7 1 0 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 4 4 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 2 3 0 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 9 0 0 0 9
Mendelics 6 2 0 0 0 1 0 0 9
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 3 0 0 0 3 0 8
Human Genetics Disease in Children – Taif University, Taif University 3 1 0 0 4 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 2 1 3 1 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 1 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 0 0 6
Blueprint Genetics 2 2 1 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 4 0 0 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 2 0 0 0 5
Dr.Nikuei Genetic Center 1 0 0 3 1 0 0 0 5
Institute of Human Genetics, Cologne University 0 1 3 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 2 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 3 0 0 0 0 0 4
MGZ Medical Genetics Center 0 3 0 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 0 2
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 0 2
New York Genome Center 0 2 0 0 0 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 1 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 0 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Arcensus 0 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 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 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1

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