ClinVar Miner

Variants studied for nephrotic syndrome

Included ClinVar conditions (59):
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
449 666 2262 1420 524 1 10 23 4919

Gene and significance breakdown #

Total genes and gene combinations: 108
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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 20 498 670 147 0 0 1 1260
LAMB2 48 31 505 312 45 0 0 0 890
NPHS1 95 282 222 85 38 0 0 0 605
PAX2 28 28 144 100 18 0 0 0 309
PLCE1 23 18 128 20 25 0 0 0 208
TRPC6 10 14 96 14 36 0 0 0 160
NPHS2 40 61 43 17 12 0 1 0 143
WT1 13 13 78 28 15 0 0 0 142
CD2AP 4 4 67 19 31 0 0 0 123
ACTN4 5 7 32 27 40 0 0 0 101
AXDND1, NPHS2 15 34 32 5 8 0 0 0 79
MYO1E 5 5 36 25 6 0 0 1 76
LOC107982234, WT1 2 2 53 9 7 0 0 0 69
KIRREL2, NPHS1 6 24 23 10 7 0 0 0 58
ANLN 2 0 20 6 24 0 0 1 52
DGKE 11 9 13 6 3 0 5 0 45
COQ8B 16 9 15 2 3 0 0 11 42
CRB2 6 8 20 6 1 0 0 0 38
COQ6, ENTPD5 11 4 14 2 4 0 0 8 35
NOC3L, PLCE1 1 1 20 6 7 0 0 0 34
MAGI2 3 1 20 5 4 0 0 0 33
NUP93 6 9 15 2 5 0 0 0 32
SGPL1 11 4 9 2 5 0 0 1 29
LAMA5 7 14 11 0 0 0 0 0 28
APOL1 2 0 7 11 0 1 4 0 24
PTPRO 2 0 10 7 2 0 0 0 21
LAMB2, LOC129936738 1 0 15 4 1 0 0 0 20
NUP107 5 4 5 1 3 0 0 0 16
TBC1D8B 5 4 8 2 0 0 0 0 16
NUP205 1 1 7 1 5 0 0 0 15
AVIL 3 2 6 0 1 0 0 0 11
CD2AP, CD2AP-DT, LOC129996604 0 0 5 0 5 0 0 0 10
NUP160 4 0 6 0 2 0 0 0 10
DAAM2 5 0 4 0 0 0 0 0 9
KANK2 2 0 5 3 0 0 0 0 9
NUP133 3 4 4 0 1 0 0 0 9
ARHGDIA 3 1 3 0 1 0 0 0 8
EMP2 3 1 3 0 1 0 0 0 8
FAT1 0 6 2 0 0 0 0 0 8
COL4A5 1 4 2 0 0 0 0 0 7
INF2, LOC130056630 0 0 3 3 1 0 0 0 7
SMARCAL1 2 6 0 0 0 0 0 0 7
TTC21B 1 2 4 0 0 0 0 0 6
COL4A4 0 4 1 0 0 0 0 0 5
COQ6 1 1 1 2 1 0 0 0 5
MYH9 0 0 5 0 0 0 0 0 5
NOS1AP 2 0 1 1 1 0 0 0 5
NUP85 1 0 0 0 4 0 0 0 5
GGA3, NUP85 3 2 2 0 0 0 0 0 4
COL4A3, MFF-DT 1 0 2 0 0 0 0 0 3
INF2, LOC130056627 0 0 2 0 1 0 0 0 3
LOC112272600, MYO1E 0 1 1 1 0 0 0 0 3
WDR73 0 3 0 0 0 0 0 0 3
AGXT 0 2 0 0 0 0 0 0 2
ALG1 0 1 1 0 0 0 0 0 2
ALMS1 0 0 2 0 0 0 0 0 2
ARHGAP24 0 0 2 0 0 0 0 0 2
AVIL, TSFM 1 0 2 0 0 0 0 0 2
CLCN5 1 1 0 0 0 0 0 0 2
ITGA3 0 2 0 0 0 0 0 0 2
ITSN1 0 0 2 0 0 0 0 0 2
KIRREL1, LOC126805884 1 0 1 0 0 0 0 0 2
LOC110120845, PAX2 0 1 1 0 0 0 0 0 2
LOC130004381, PLCE1 0 0 2 0 0 0 0 0 2
ABCC6 0 0 0 1 0 0 0 0 1
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
AMT, C3orf62, CCDC71, CIMIP7, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 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
ATIC, FN1 0 1 0 0 0 0 0 0 1
BMP7 0 0 1 0 0 0 0 0 1
CDK20 0 0 1 0 0 0 0 0 1
COG1, LOC126862634 0 0 1 0 0 0 0 0 1
COQ2 0 1 0 0 0 0 0 0 1
COQ2, LOC112997540 0 1 0 0 0 0 0 0 1
CTNS 0 1 0 0 0 0 0 0 1
DDX53, PTCHD1 0 0 1 0 0 0 0 0 1
DHTKD1 0 0 1 0 0 0 0 0 1
FAT1, LOC126807255 0 1 0 0 0 0 0 0 1
GLA, RPL36A-HNRNPH2 0 1 0 0 0 0 0 0 1
HIF1AN, NDUFB8, PAX2 1 0 0 0 0 0 0 0 1
ITGB4 0 0 1 0 0 0 0 0 1
KANK4 0 1 0 0 0 0 0 0 1
KIRREL1 1 0 0 0 0 0 0 0 1
LDHAL6B, MYO1E 0 0 0 1 0 0 0 0 1
LMX1B 1 1 0 0 0 0 0 0 1
LOC107372315, OSGEP 0 0 1 0 0 0 0 0 1
LOC126861467, PTPRO 0 0 0 1 0 0 0 0 1
LOC129998720, MAGI2 0 0 1 0 0 0 0 0 1
LOC129999375, PODXL 0 0 0 0 1 0 0 0 1
MXRA5 0 0 1 0 0 0 0 0 1
NPHS1, PRODH2 1 0 0 0 0 0 0 0 1
OSGEP 0 0 1 0 0 0 0 0 1
PDSS2 0 1 0 0 0 0 0 0 1
PODXL 0 0 1 0 0 0 0 0 1
PROS1 0 0 0 0 1 0 0 0 1
REN 0 0 1 0 0 0 0 0 1
RUNX2 0 1 0 0 0 0 0 0 1
SERPINA10 0 0 0 1 0 0 0 0 1
SLC35F1 0 0 1 0 0 0 0 0 1
SPINK1 0 0 0 1 0 0 0 0 1
SYNPO 0 1 1 0 0 0 0 0 1
TNS2 0 0 1 0 0 0 0 0 1
TPRKB 0 0 1 0 0 0 0 0 1
TSFM 0 0 0 1 0 0 0 0 1
ZNF91 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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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 74 20 992 1042 176 0 0 0 2304
Illumina Laboratory Services, Illumina 9 5 587 88 226 0 0 0 914
Fulgent Genetics, Fulgent Genetics 65 41 426 325 30 0 0 0 887
Baylor Genetics 108 139 56 1 0 0 0 0 304
Genome-Nilou Lab 12 27 20 21 160 0 0 0 240
Natera, Inc. 42 8 63 36 43 0 0 0 192
Counsyl 19 91 51 10 1 0 0 0 172
OMIM 158 0 0 0 0 0 7 0 165
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 108 0 0 0 0 0 0 109
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 32 19 51 0 2 0 0 0 104
Yale Center for Mendelian Genomics, Yale University 7 81 12 0 0 0 0 0 100
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 63 26 0 0 0 0 0 0 89
3billion 18 17 25 9 0 0 0 0 69
Precision Medicine Center, Zhengzhou University 17 29 22 0 0 0 0 0 68
Revvity Omics, Revvity 15 13 37 0 0 0 0 0 65
Sydney Genome Diagnostics, Children's Hospital Westmead 15 22 26 0 0 0 1 0 64
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 6 36 2 1 0 0 0 61
Neuberg Centre For Genomic Medicine, NCGM 7 18 34 0 0 0 0 0 59
Myriad Genetics, Inc. 7 41 6 0 0 0 0 0 54
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 11 27 0 0 0 0 0 48
MVZ Medizinische Genetik Mainz 2 12 34 0 0 0 0 0 48
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 3 10 3 2 0 0 0 25
Vasylyeva lab, Texas Tech University Health Sciences Center 13 3 7 0 1 0 0 0 24
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 13 8 0 0 0 0 0 0 21
GeneReviews 0 0 0 0 0 0 0 19 19
Athena Diagnostics 0 0 0 0 18 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 4 0 12 0 0 0 0 0 16
Molecular Biology Laboratory, Fundació Puigvert 6 9 0 0 0 0 0 0 15
Mendelics 7 4 1 1 0 1 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 14 0 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 13 0 0 0 13
SIB Swiss Institute of Bioinformatics 0 8 3 0 1 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 5 4 0 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 3 2 0 1 0 0 0 11
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 1 7 1 0 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 2 0 6 2 1 0 0 0 11
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 1 4 0 0 0 3 0 10
Blueprint Genetics 5 3 2 0 0 0 0 0 10
NIHR Bioresource Rare Diseases, University of Cambridge 3 7 0 0 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 1 0 0 0 0 0 10
Human Genetics Disease in Children – Taif University, Taif University 3 1 0 0 4 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 2 0 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 2 2 3 1 0 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 3 3 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 1 2 3 0 0 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 1 2 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 4 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 1 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 3 0 0 0 0 0 5
Dr.Nikuei Genetic Center 1 0 0 3 1 0 0 0 5
MGZ Medical Genetics Center 0 3 1 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 1 0 2 0 0 0 0 0 3
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 0 3 0 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 0 2
New York Genome Center 0 2 0 0 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 2
DASA 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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 1
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
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 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
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 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
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 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
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 0 0 1
Pediatric Department, Iran University of Medical Sciences 0 0 1 0 0 0 0 0 1

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