ClinVar Miner

Variants studied for familial nephrotic syndrome

Included ClinVar conditions (50):
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 not provided total
432 566 2169 1401 521 5 23 4725

Gene and significance breakdown #

Total genes and gene combinations: 71
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
INF2 22 19 495 670 147 0 1 1256
LAMB2 48 25 504 312 45 0 0 885
NPHS1 93 276 221 84 38 0 0 601
PAX2 28 24 143 100 18 0 0 306
PLCE1 22 10 124 20 25 0 0 195
TRPC6 10 13 92 14 36 0 0 157
WT1 13 13 77 28 15 0 0 141
NPHS2 39 55 37 11 10 0 0 131
CD2AP 4 4 67 19 31 0 0 123
ACTN4 5 7 29 27 40 0 0 98
MYO1E 5 2 35 25 6 0 1 73
LOC107982234, WT1 2 2 53 8 7 0 0 69
AXDND1, NPHS2 15 29 24 5 8 0 0 68
KIRREL2, NPHS1 6 24 22 10 7 0 0 57
ANLN 2 0 19 6 24 0 1 51
DGKE 11 8 13 6 3 5 0 45
COQ8B 16 9 14 2 3 0 11 41
CRB2 6 6 20 6 1 0 0 38
COQ6, ENTPD5 11 4 14 2 4 0 8 35
MAGI2 3 1 20 5 4 0 0 33
NOC3L, PLCE1 1 1 19 6 7 0 0 33
NUP93 6 5 15 2 5 0 0 31
SGPL1 11 2 9 2 5 0 1 29
PTPRO 2 0 10 7 2 0 0 21
LAMB2, LOC129936738 1 0 15 4 1 0 0 20
LAMA5 7 5 4 0 0 0 0 16
NUP107 5 4 4 1 3 0 0 15
NUP205 1 1 7 1 5 0 0 15
TBC1D8B 5 3 6 2 0 0 0 14
AVIL 3 2 6 0 1 0 0 11
CD2AP, CD2AP-DT, LOC129996604 0 0 5 0 5 0 0 10
KANK2 2 0 5 3 0 0 0 9
NUP133 3 4 4 0 1 0 0 9
NUP160 4 0 5 0 2 0 0 9
ARHGDIA 3 1 3 0 1 0 0 8
EMP2 3 1 3 0 1 0 0 8
INF2, LOC130056630 0 0 3 3 1 0 0 7
COQ6 1 1 1 2 1 0 0 5
NOS1AP 2 0 1 1 1 0 0 5
NUP85 1 0 0 0 4 0 0 5
GGA3, NUP85 3 2 2 0 0 0 0 4
INF2, LOC130056627 0 0 2 0 1 0 0 3
ALG1 0 1 1 0 0 0 0 2
AVIL, TSFM 1 0 2 0 0 0 0 2
KIRREL1, LOC126805884 1 0 1 0 0 0 0 2
LOC110120845, PAX2 0 1 1 0 0 0 0 2
LOC112272600, MYO1E 0 0 1 1 0 0 0 2
TTC21B 1 0 1 0 0 0 0 2
ABCC6 0 0 0 1 0 0 0 1
ACTN4, LOC130064361 0 0 0 0 1 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 1
ADSS1, INF2 0 0 1 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 1
ARHGAP24 0 0 1 0 0 0 0 1
ARHGDIA, LOC130061973 0 0 1 0 0 0 0 1
ARHGDIA, LOC130061974 0 0 1 0 0 0 0 1
BMP7 0 0 1 0 0 0 0 1
FAT1, LOC126807255 0 1 0 0 0 0 0 1
HIF1AN, NDUFB8, PAX2 1 0 0 0 0 0 0 1
KIRREL1 1 0 0 0 0 0 0 1
LDHAL6B, MYO1E 0 0 0 1 0 0 0 1
LOC126861467, PTPRO 0 0 0 1 0 0 0 1
LOC129998720, MAGI2 0 0 1 0 0 0 0 1
LOC130004381, PLCE1 0 0 1 0 0 0 0 1
NPHS1, PRODH2 1 0 0 0 0 0 0 1
PROS1 0 0 0 0 1 0 0 1
SERPINA10 0 0 0 1 0 0 0 1
SPINK1 0 0 0 1 0 0 0 1
SYNPO 0 0 1 0 0 0 0 1
TSFM 0 0 0 1 0 0 0 1
ZNF91 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 74 20 992 1042 176 0 0 2304
Illumina Laboratory Services, Illumina 9 5 583 88 226 0 0 910
Fulgent Genetics, Fulgent Genetics 65 41 421 314 30 0 0 871
Baylor Genetics 108 139 52 1 0 0 0 300
Genome-Nilou Lab 12 27 20 21 160 0 0 240
Counsyl 19 91 51 10 1 0 0 172
OMIM 153 0 0 0 0 5 0 158
Natera, Inc. 28 6 48 29 34 0 0 145
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 108 0 0 0 0 0 109
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 32 19 51 0 2 0 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 58 22 0 0 0 0 0 80
3billion 18 17 24 9 0 0 0 68
Revvity Omics, Revvity 15 13 37 0 0 0 0 65
Precision Medicine Center, Zhengzhou University 17 21 22 0 0 0 0 60
Neuberg Centre For Genomic Medicine, NCGM 7 18 30 0 0 0 0 55
Myriad Genetics, Inc. 7 41 6 0 0 0 0 54
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 11 27 0 0 0 0 48
MVZ Medizinische Genetik Mainz 2 12 34 0 0 0 0 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 4 20 1 1 0 0 41
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 3 9 3 2 0 0 24
Vasylyeva lab, Texas Tech University Health Sciences Center 13 3 7 0 1 0 0 24
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 12 8 0 0 0 0 0 20
GeneReviews 0 0 0 0 0 0 19 19
Athena Diagnostics 0 0 0 0 18 0 0 18
Molecular Biology Laboratory, Fundació Puigvert 6 9 0 0 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 14 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 13 0 0 13
Mendelics 7 4 1 1 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 1 0 11 0 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 8 3 0 1 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 5 4 0 0 0 0 12
Blueprint Genetics 5 3 1 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 2 0 1 0 0 9
Human Genetics Disease in Children – Taif University, Taif University 3 1 0 0 4 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 2 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 2 2 3 1 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 3 3 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 0 6
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 1 3 0 0 0 0 6
Institute of Human Genetics, Cologne University 1 2 3 0 0 0 0 6
Genomics England Pilot Project, Genomics England 2 4 0 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 0 3 2 0 0 0 6
Centogene AG - the Rare Disease Company 2 1 2 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 4 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 1 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 3 0 0 0 0 5
Dr.Nikuei Genetic Center 1 0 0 3 1 0 0 5
MGZ Medical Genetics Center 0 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 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 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 4 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 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 1 0 2 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 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 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 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 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 0 2
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 2
New York Genome Center 0 2 0 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 0 2
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 0 2 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 1 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 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 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 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 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 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 0 1 0 0 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 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 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Arcensus 0 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
Pediatric Department, Iran University of Medical Sciences 0 0 1 0 0 0 0 1

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