ClinVar Miner

Variants studied for corneal disease

Included ClinVar conditions (112):
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
1590 1017 3479 734 784 9 7194

Gene and significance breakdown #

Total genes and gene combinations: 152
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 843 757 816 201 89 5 2488
CRB1 101 50 145 57 21 0 344
ZNF469 21 8 188 55 35 2 305
GUCY2D 61 49 80 27 15 0 226
RPGRIP1 40 18 133 27 25 0 218
RPE65 55 42 96 40 19 0 214
CHST6 7 0 129 18 46 0 199
CRX 25 5 108 29 41 0 199
AIPL1 29 3 116 21 29 0 176
CEP290 26 8 125 7 9 0 175
PIKFYVE 5 1 76 12 80 0 174
RD3 5 0 114 12 17 0 143
TGFBR2 20 2 79 36 14 0 143
CYP4V2 0 0 95 9 16 0 120
SLC4A11 22 1 81 4 12 0 119
LCA5 10 0 94 5 7 0 116
TMPO 0 0 74 22 17 0 113
ELP4, PAX6 3 1 57 1 37 0 99
SPATA7 12 3 64 11 13 0 97
LRAT 3 3 80 7 6 0 95
TGFBI 13 1 57 10 11 0 90
PAX6 44 1 26 10 9 0 88
UBIAD1 10 0 51 4 23 0 88
CYP1B1 3 0 71 2 10 1 86
IMPDH1 2 0 61 7 5 0 73
TULP1 24 3 37 2 5 0 71
GSN 2 0 24 8 35 0 69
VSX1 2 0 36 9 27 0 68
RDH12 27 13 16 11 3 0 66
PXDN 9 0 9 12 35 0 65
PITX2 0 0 38 6 19 0 63
GIGYF2, KCNJ13 5 1 48 3 3 0 59
TACSTD2 8 0 22 5 17 0 52
PRDM5 6 0 34 4 4 0 48
DCN 4 0 18 9 14 0 45
FBN1, LOC113939944 18 12 8 4 1 0 41
CYP1B1, RMDN2 0 0 34 4 2 0 40
GDF6 4 0 23 5 4 0 36
NMNAT1 14 6 10 4 4 0 35
RDH12, ZFYVE26 9 3 12 2 1 0 26
KERA 6 3 0 0 0 0 8
KRT12 8 0 0 0 0 0 8
MTOR, UBIAD1 0 0 6 0 2 0 8
TELO2 6 2 2 0 0 0 8
USH2A 0 1 7 0 0 0 8
C12orf29, CEP290 0 0 6 1 0 0 7
CHRDL1 7 0 0 0 0 0 7
TCF4 4 1 2 0 0 0 7
NLRP1 4 0 2 0 0 0 6
ZEB1 6 0 2 0 1 0 6
IQCB1 3 2 0 0 0 0 5
COL5A2 0 0 4 0 0 0 4
GRHL2 2 3 0 0 1 0 4
IMPDH1, LOC107986845 0 0 3 1 0 0 4
LOC106014249, PAX6 0 0 4 0 0 0 4
OVOL2 4 0 0 0 0 0 4
​intergenic 0 0 3 0 0 0 3
CNGB3 3 0 0 0 0 0 3
COL8A2 3 0 0 0 0 0 3
KRT3 3 0 0 0 0 0 3
POLA1 1 0 2 0 0 0 3
RP2 2 1 0 0 0 0 3
ABCA4 1 1 0 0 0 0 2
ADAMTS18 0 0 2 0 0 0 2
AGBL1 2 0 1 0 0 0 2
COL17A1 2 0 0 0 0 0 2
FBN2 0 1 1 0 0 0 2
LTBP2 1 0 1 0 0 0 2
MYH11 0 0 2 0 0 0 2
MZT2A, TUBA3D 2 0 0 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
NPHP4 0 0 2 0 0 0 2
PITRM1 0 0 1 1 0 0 2
PROM1 2 0 0 0 0 0 2
PRPF8 0 0 1 1 0 0 2
PTCH1 0 2 0 0 0 0 2
SIX6 2 0 0 0 0 0 2
TBCD 0 0 2 0 0 0 2
TGFBR1 1 0 0 1 0 0 2
TSTD3, USP45 1 0 1 0 0 0 2
TUBB4B 2 2 0 0 0 0 2
AHI1 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 1
BEST1 0 0 1 0 0 0 1
BUB1B-PAK6, PAK6 0 0 1 0 0 0 1
CDHR1 1 0 0 0 0 0 1
CEP152, FBN1, LOC113939944 1 0 0 0 0 0 1
CFAP410 1 0 0 0 0 0 1
CLUAP1 1 0 0 0 0 0 1
COL11A1 0 1 0 0 0 0 1
COL3A1 0 0 1 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 0 1
COL5A3 0 0 1 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SLC12A1, SLC24A5 1 0 0 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 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DEPDC1, RPE65 1 0 0 0 0 0 1
DTHD1 0 0 1 0 0 0 1
ELP4, LOC105980003, LOC105980073, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC106007485, LOC106007493, PAX6 1 0 0 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
FLNA 0 0 1 0 0 0 1
FREM1 0 0 0 1 0 0 1
FSCN2 0 0 1 0 0 0 1
FZD2 0 0 1 0 0 0 1
GRM6 1 0 0 0 0 0 1
GRM6, LOC100130798 1 0 0 0 0 0 1
GUCA1B 0 0 1 0 0 0 1
HKDC1 0 0 1 0 0 0 1
IL17B, PCYOX1L 0 0 1 0 0 0 1
INPP5E 0 1 0 0 0 0 1
ITPA, SLC4A11 0 0 1 0 0 0 1
KCNQ1 0 1 0 0 0 0 1
LOC100507291, RBP1 0 0 1 0 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 1
LRP5 0 0 1 0 0 0 1
LRP6 0 0 1 0 0 0 1
MIR184 1 0 0 0 0 0 1
MKS1 0 1 0 0 0 0 1
MYLK 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
NFATC3 0 0 1 0 0 0 1
NFIX 0 1 0 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
NR2E3 1 0 0 0 0 0 1
PANK2 0 0 1 0 0 0 1
PCYT1A 1 0 0 0 0 0 1
PDE6A 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
PEX1 0 0 0 0 0 1 1
PIK3CG 0 0 1 0 0 0 1
PPP3CC 0 0 1 0 0 0 1
PROB1 0 0 1 0 0 0 1
PRPF31 0 0 1 0 0 0 1
PTK6 0 0 1 0 0 0 1
RARG 0 0 0 1 0 0 1
RGS9 1 0 0 0 0 0 1
RIMS1 0 0 1 0 0 0 1
RP1 0 0 1 0 0 0 1
SKP1 0 0 1 0 0 0 1
SLC38A8 0 1 0 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: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 2131 365 571 0 3064
Invitae 818 222 1061 338 236 0 2675
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
OMIM 297 0 4 0 0 0 301
Laboratory of Genetics in Ophthalmology,Institut Imagine 134 89 6 1 0 0 230
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 57 87 0 0 0 0 144
Mendelics 37 33 21 14 18 0 123
Center for Human Genetics, Inc,Center for Human Genetics, Inc 33 34 23 17 0 0 107
Integrated Genetics/Laboratory Corporation of America 6 43 21 8 15 0 93
Fulgent Genetics,Fulgent Genetics 28 5 47 0 0 0 80
Blueprint Genetics 9 35 13 1 0 0 58
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 1 0 0 0 47
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 33 6 2 0 0 0 41
Sharon lab,Hadassah-Hebrew University Medical Center 29 7 0 0 0 0 36
Willoughby Group, Queen's University Belfast 17 8 0 0 8 0 33
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 10 14 2 0 0 33
GeneReviews 25 0 0 0 0 0 25
NIHR Bioresource Rare Diseases, University of Cambridge 8 16 0 0 0 0 24
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 10 8 5 0 0 0 23
Molecular Genetics Laboratory,Institute for Ophthalmic Research 19 0 3 0 0 0 22
Molecular Diagnostics Laboratory,Seoul National University Hospital 10 0 12 0 0 0 22
CSER _CC_NCGL, University of Washington 0 0 14 6 1 0 21
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 18 0 20
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 5 5 0 0 0 19
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 18 0 18
Rui Chen Lab,Baylor College of Medicine 15 2 0 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 4 8 0 0 0 16
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 8 2 0 0 0 16
Counsyl 2 0 2 9 2 0 15
Human Genetics - Radboudumc,Radboudumc 11 0 3 0 0 0 14
SIB Swiss Institute of Bioinformatics 0 8 5 1 0 0 14
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2 5 6 0 0 0 13
Institute of Human Genetics,Polish Academy of Sciences 0 0 12 0 0 0 12
Broad Institute Rare Disease Group,Broad Institute 4 5 2 0 0 0 11
Paul Sabatier University EA-4555, Paul Sabatier University 0 2 0 8 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 1 2 0 9
Institute of Human Genetics,Cologne University 3 4 2 0 0 0 9
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 7 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 2 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 6 0 0 0 0 7
Ocular Genomics Institute,Massachusetts Eye and Ear 2 4 1 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 6 0 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 2 1 0 0 0 6
Baylor Genetics 2 0 3 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 5
Genetics Department, University Hospital of Toulouse 5 0 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Reproductive Health Research and Development,BGI Genomics 0 0 4 0 1 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 1 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 1 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 4 0 0 0 4
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 4 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 3 0 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 3 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 2 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
Elahi Laboratory, University of Tehran 2 0 1 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 3 0 0 0 3
Department of Medical Genetics,Gazi University 3 0 0 0 0 0 3
Hardcastle Lab,UCL Institute of Ophthalmology 0 3 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 1 1 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Columbia University Medical Center,Columbia University 2 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 1 0 0 2
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital 1 0 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 0 0 0 2
Leeds Institute of Medical Research,University of Leeds 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
SNPedia 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics,Martin-Luther-Universität Halle-Wittemberg 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1 0 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Noruzinia Laboratory,Tarbiat Modares University 1 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Pediatrics Department,University of Wisconsin 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital,School of Medicine, Xiamen University 1 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1

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