ClinVar Miner

Variants studied for cystic kidney disease

Included ClinVar conditions (102):
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
1047 659 2210 520 467 19 4567

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 87 203 340 61 69 5 689
LOC107303340, VHL 100 32 172 56 13 0 357
VHL 75 24 160 48 7 0 299
CEP290 60 21 118 26 29 0 231
OFD1 124 7 27 7 26 0 191
PKD1 80 24 42 0 22 6 173
BBS10 43 65 64 10 7 0 169
CC2D2A 19 24 96 20 8 0 153
RPGRIP1L 33 8 79 14 12 0 140
BBS2 29 36 65 21 10 0 136
PKD2 41 3 64 16 16 1 136
GLIS3 4 1 84 23 15 0 127
BBS12 22 27 57 20 22 0 122
BBS9 24 3 49 27 25 0 112
MKS1 19 29 63 10 4 0 111
IFT140 11 0 73 17 18 0 106
TMEM67 17 34 52 3 7 0 100
BBS1, ZDHHC24 25 23 46 5 8 0 96
ASTN2, TRIM32 4 1 80 9 3 0 95
BBS4 23 6 29 10 17 0 81
MKKS 17 4 35 10 10 0 74
NPHP3, NPHP3-ACAD11 6 0 55 9 3 0 73
BBS7 15 4 33 6 10 0 64
WDPCP 2 0 47 11 7 0 62
UMOD 17 3 9 12 13 0 54
TCTN2 6 0 31 8 17 0 53
IFT140, LOC105371046 8 2 30 9 12 0 52
TMEM216 5 13 29 2 4 0 49
SDCCAG8 7 4 30 3 6 0 48
BBS1 12 22 11 6 3 1 47
TTC8 4 0 26 6 6 0 39
LOC105371049, PKD1 15 3 8 0 5 1 32
TMEM231 7 1 12 6 6 0 31
BBS5 12 6 3 2 7 0 30
ARL6 8 2 11 3 2 0 25
B9D2 4 0 16 2 2 0 23
TCTN1 0 0 6 8 7 0 21
B9D1 3 1 10 4 4 0 20
NEK8 10 0 2 0 0 0 12
C12orf29, CEP290 0 2 7 1 0 0 10
ATP6V0A2, TCTN2 0 0 1 6 2 0 9
B9D2, TMEM91 0 0 8 0 0 0 8
AKT3, SDCCAG8 0 0 6 0 1 0 7
FAN1, MTMR10 6 0 0 0 0 0 6
NPHP1 2 0 4 0 0 0 6
BBS4, HIGD2B 0 0 2 2 1 0 5
DNAJB11 5 2 0 0 0 0 5
FAN1 3 0 2 0 0 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 2 0 2 0 0 0 4
CRB2 4 0 0 0 0 0 4
DZIP1L 4 0 0 0 0 0 4
GANAB 2 0 2 0 0 0 4
KIF14 2 0 2 0 0 0 4
LRP5 0 0 0 0 0 4 4
LZTFL1 3 0 1 0 0 0 4
​intergenic 1 0 1 0 1 0 3
C8orf37 2 0 1 0 0 0 3
IFT74 2 1 0 0 0 1 3
TMEM107 3 0 0 0 0 0 3
BBIP1 1 0 1 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
PNPLA6 2 0 0 0 0 0 2
TXNDC15 0 2 0 0 0 0 2
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 1
ALG9 1 0 0 0 0 0 1
ALMS1 0 1 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
CSPP1 0 1 0 0 0 0 1
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
EVC2 0 1 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
FZD3 0 1 0 0 0 0 1
GLI1 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 1
IFT27 1 0 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
KIAA0586 0 1 0 0 0 0 1
KIF4A 0 1 0 0 0 0 1
LOC101927082, PKHD1 0 1 0 0 0 0 1
MIR1225, PKD1 1 0 0 0 0 0 1
MUC1 1 0 0 0 0 0 1
PAX2 0 1 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
TMEM138 0 1 0 0 0 0 1
TMEM17 0 0 1 0 0 0 1
TMEM237 0 1 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 334 62 708 204 286 0 1593
Illumina Clinical Services Laboratory,Illumina 12 7 1172 253 114 0 1558
Counsyl 40 342 248 41 3 0 674
OMIM 252 0 0 0 0 0 252
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 120 35 34 7 2 0 198
GeneReviews 126 0 0 0 22 0 148
Fulgent Genetics,Fulgent Genetics 45 13 90 0 0 0 148
Integrated Genetics/Laboratory Corporation of America 70 39 1 3 2 0 115
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 44 22 32 0 0 0 98
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 83
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 1 15 39 0 58
Laboratory of Medical Genetics, INSERM 57 0 0 0 0 0 57
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 0 6 30 0 40
Genetic Services Laboratory, University of Chicago 23 10 4 0 0 0 37
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 3 32 0 37
Athena Diagnostics Inc 0 0 0 0 35 0 35
Department of Pathology and Laboratory Medicine,Sinai Health System 24 7 0 0 0 0 31
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 18 10 1 0 0 0 29
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 13 13 0 0 0 0 26
Institute of Human Genetics,Cologne University 8 6 5 0 0 0 19
Genomic Research Center,Shahid Beheshti University of Medical Sciences 7 2 10 0 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 4 13 0 18
SIB Swiss Institute of Bioinformatics 1 3 5 1 7 0 17
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 6 0 8 0 0 0 14
Broad Institute Rare Disease Group,Broad Institute 5 4 4 0 0 0 13
UW Hindbrain Malformation Research Program,University of Washington 12 0 0 0 0 0 12
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 12
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 1 0 2 0 0 8 11
Centre for Genetic Disorders, Banaras Hindu University 9 0 0 0 0 1 10
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 8 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 7 0 0 0 0 10
Baylor Genetics 4 0 5 0 0 0 9
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 9
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Center for Human Genetics, Inc 6 0 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 5 1 0 0 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 1 0 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 3 0 0 0 6
Human Genetics - Radboudumc,Radboudumc 4 0 2 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 1 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 3 0 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 1 0 0 0 5
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 2 0 0 0 0 3
PreventionGenetics 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 1 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 1 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 0 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 1
MVZ Dortmund,Dr. Eberhard & Partner 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
UDP Translational Laboratory,National Institute of Health 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 1
InterGenetics 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Stefan Somlo Laboratory,Yale School of Medicine 1 0 0 0 0 0 1

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