ClinVar Miner

Variants studied for corneal disorder

Included ClinVar conditions (74):
Minimum submission review status: Collection method:
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Gene type:
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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
374 127 1428 425 623 15 2866

Gene and significance breakdown #

Total genes and gene combinations: 112
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZNF469 23 25 246 68 120 6 421
PAX6 134 23 109 106 16 0 381
CHST6 19 8 153 32 50 0 250
PXDN 17 4 55 64 60 0 200
PIKFYVE 7 4 76 11 81 0 179
GSN 6 2 78 44 44 0 163
SLC4A11 22 8 87 5 26 0 142
CYP1B1 3 0 98 6 11 1 119
ELP4, PAX6 8 1 60 9 38 0 116
TGFBI 13 7 53 10 11 0 92
UBIAD1 10 1 51 4 25 0 91
PRDM5 8 9 42 6 5 1 70
VSX1 2 0 36 10 28 0 70
CYP4V2, KLKB1 0 0 54 3 7 0 64
PITX2 0 0 38 6 19 0 63
TACSTD2 9 1 23 5 17 0 55
CYP4V2 0 0 35 5 6 0 46
DCN 4 0 19 9 14 5 46
COL17A1 6 2 4 2 14 1 29
NLRP1 4 0 8 4 3 1 20
TCF4 8 2 4 2 3 0 19
CHRDL1 14 2 2 0 0 0 18
ZEB1 10 6 1 2 1 0 17
KRT12 8 1 3 0 2 0 14
KERA 6 3 4 0 1 0 12
GRHL2 2 3 4 1 3 0 11
CYP4V2, LOC129993526 0 0 6 1 3 0 10
AGBL1 2 0 3 1 3 0 7
OVOL2 4 0 1 0 2 0 7
​intergenic 0 0 6 0 0 0 6
COL8A2 3 0 1 0 2 0 6
CYP1B1, LOC128772254 0 0 3 0 2 0 5
KRT3, LOC126861527 3 2 0 0 0 0 5
LOC106014249, PAX6 0 0 4 0 1 0 5
LOC126807519, TGFBI 0 0 4 0 0 0 4
LOC129929400, UBIAD1 0 0 3 0 0 0 3
LOC129929401, UBIAD1 0 0 3 0 0 0 3
LOC129935518, PIKFYVE 0 0 1 1 1 0 3
LOC130059718, ZNF469 0 0 2 0 1 0 3
LOC130059719, ZNF469 1 0 1 0 1 0 3
MUC5AC 0 0 3 0 0 0 3
AGBL1, LOC102724452 0 0 1 0 1 0 2
C14orf39, SIX6 2 0 0 0 0 0 2
CHST6, LOC130059434 0 0 2 0 0 0 2
COL4A1 1 1 0 0 0 0 2
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 2 0 0 0 0 0 2
KIR3DL1 0 0 2 0 0 0 2
LOC130003630, ZEB1 1 1 0 0 0 0 2
MCOLN1 2 0 0 0 0 0 2
MZT2A, TUBA3D 2 0 0 0 0 0 2
PITRM1 0 0 0 1 1 0 2
PRDX3 2 0 0 0 0 0 2
PTCH1 0 2 0 0 0 0 2
TBCD 0 0 2 0 0 0 2
TRA, TRAV19 0 0 2 0 0 0 2
ALDH3A1 0 1 0 0 0 0 1
ARHGAP35 1 0 0 0 0 0 1
BCAR1, CFDP1, CHST6, CTRB1, CTRB2, FA2H, LDHD, TMEM170A, WDR59, ZFP1, ZNRF1 1 0 0 0 0 0 1
BMP4 0 1 0 0 0 0 1
BUB1B-PAK6, PAK6 0 0 1 0 0 0 1
COL11A1 0 1 0 0 0 0 1
COL1A1 0 1 0 0 0 0 1
COL5A2 0 1 0 0 0 0 1
COL5A3 0 0 1 0 0 0 1
CYP1B1, LOC110599580 0 0 1 0 0 0 1
DAB1 0 0 0 1 0 0 1
DAB2IP 0 0 1 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DOP1B 0 0 1 0 0 0 1
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC106007485, LOC106007493, PAX6 1 0 0 0 0 0 1
EML6 0 0 1 0 0 0 1
EPHB2 0 0 0 1 0 0 1
FAT1 0 0 0 1 0 0 1
FAT4 0 0 0 1 0 0 1
FREM1 0 0 0 1 0 0 1
FZD2 0 0 1 0 0 0 1
HKDC1 0 0 1 0 0 0 1
HOMER3 0 0 1 0 0 0 1
IGF1R 0 0 1 0 0 0 1
IL17B 0 0 1 0 0 0 1
ITPA, SLC4A11 0 0 1 0 0 0 1
KIR2DL1 0 0 1 0 0 0 1
KRT3 0 0 1 0 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 1
LOC129994706, TGFBI 0 0 1 0 0 0 1
LOC129994769, PROB1, SPATA24 0 0 1 0 0 0 1
LOC130065323, SLC4A11 0 0 1 0 0 0 1
LRP6 0 0 1 0 0 0 1
NANOGP8 0 0 1 0 0 0 1
NBEAL2 0 0 1 0 0 0 1
NBPF19 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
NFATC3 0 0 1 0 0 0 1
NFE2L3 0 0 1 0 0 0 1
NFIX 0 1 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 1
PLOD1 0 1 0 0 0 0 1
PPP3CC 0 0 1 0 0 0 1
PRPF8 0 0 0 1 0 0 1
PTK6 0 0 1 0 0 0 1
PXDN, TPO 0 0 1 0 0 0 1
RARG 0 0 0 1 0 0 1
RYR1 0 0 1 0 0 0 1
SKP1 0 0 1 0 0 0 1
SPARCL1 1 0 0 0 0 0 1
TRB, TRBV12-5 0 0 1 0 0 0 1
TSC1 0 1 0 0 0 0 1
TSC22D2 0 0 1 0 0 0 1
UCMA 0 0 1 0 0 0 1
VANGL1 0 0 1 0 0 0 1
WNT1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 3 1 1015 160 394 0 1572
Labcorp Genetics (formerly Invitae), Labcorp 155 22 172 189 83 0 621
Genome-Nilou Lab 0 0 0 1 190 0 191
Fulgent Genetics, Fulgent Genetics 7 5 104 60 2 0 178
OMIM 133 0 2 0 0 0 135
Willoughby Group, Queen's University Belfast 17 8 0 0 8 0 33
Revvity Omics, Revvity 0 4 25 0 0 0 29
Institute of Human Genetics, Polish Academy of Sciences 0 0 29 0 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 17 0 0 0 0 23
Genetics and Molecular Pathology, SA Pathology 12 7 4 0 0 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 3 11 0 1 0 22
Baylor Genetics 0 1 18 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 8 8 1 0 19
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 18 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 18 0 18
Mendelics 1 1 6 1 6 0 15
Neuberg Centre For Genomic Medicine, NCGM 3 4 7 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 8 1 0 0 13
Refractive Surgery Department, Bright Eye Hospital 0 7 5 0 0 0 12
Center for Medical Genetics Ghent, University of Ghent 4 6 0 0 0 0 10
Paul Sabatier University EA-4555, Paul Sabatier University 0 2 0 8 0 0 10
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 7 1 2 0 0 0 10
Genetics Department, University Hospital of Toulouse 7 1 1 0 0 0 9
3billion 1 3 5 0 0 0 9
MGZ Medical Genetics Center 2 0 5 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
GeneReviews 0 0 0 0 0 5 5
New York Genome Center 1 0 4 0 0 0 5
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute 2 1 2 0 0 0 5
Dr.Nikuei Genetic Center 0 1 0 0 4 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 1 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 4 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 3 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 0 0 3 0 1 0 4
Molecular Medicine, University of Pavia 2 2 0 0 0 0 4
DBGen Ocular Genomics 1 3 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 3
Eye Genetics Research Group, Children's Medical Research Institute 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 3 0 0 0 3
Hardcastle Lab, UCL Institute of Ophthalmology 0 3 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Hadassah Hebrew University Medical Center 2 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Leeds Institute of Medical Research, University of Leeds 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Institute of Human Genetics, Martin-Luther-Universität Halle-Wittemberg 1 0 0 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 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 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Amyloidosis Center, Boston University School of Medicine 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Laboratory of Molecular Human Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency 1 0 0 0 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 0 1
Davidson Lab, University College London 1 0 0 0 0 0 1

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