ClinVar Miner

Variants studied for corneal disease

Included ClinVar conditions (110):
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
1952 1176 4297 1249 828 9 8980

Gene and significance breakdown #

Total genes and gene combinations: 162
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 986 785 924 322 89 5 2870
CRB1 134 69 230 164 21 0 570
GUCY2D 70 62 178 67 15 0 382
RPGRIP1 72 23 219 65 25 0 376
ZNF469 23 11 200 55 36 2 321
RPE65 73 50 129 92 19 0 317
CEP290 41 20 210 21 19 0 297
CRX 31 6 142 35 41 0 246
AIPL1 31 5 150 32 29 0 223
CHST6 7 0 135 23 46 0 208
PIKFYVE 5 1 76 12 80 0 174
SPATA7 27 4 105 29 13 0 172
RD3 5 0 129 20 17 0 166
TMPO 0 0 107 35 17 0 159
LCA5 19 3 116 12 11 0 156
TGFBR2 20 4 81 36 14 0 146
SLC4A11 23 1 90 18 34 0 144
RDH12 38 24 36 34 3 0 126
CYP4V2 0 0 95 9 16 0 120
ELP4, PAX6 4 1 57 3 37 0 102
LRAT 5 7 81 7 6 0 102
PAX6 51 2 29 12 9 0 101
TULP1 31 15 42 2 5 0 94
NMNAT1 34 26 29 9 4 0 93
TGFBI 13 2 57 10 11 0 91
UBIAD1 10 0 51 4 23 0 88
CYP1B1 3 0 70 2 10 1 86
GSN 2 0 27 8 42 0 79
IMPDH1 2 1 65 7 5 0 78
PXDN 11 0 15 16 35 0 77
VSX1 2 0 36 9 27 0 68
GDF6 4 0 44 15 4 0 67
GIGYF2, KCNJ13 7 2 49 3 3 0 63
PITX2 0 0 38 6 19 0 63
RDH12, ZFYVE26 14 7 27 14 1 0 59
PRDM5 7 3 35 5 4 0 54
TACSTD2 8 0 22 5 17 0 52
FBN1, LOC113939944 21 12 11 5 1 0 46
DCN 4 0 18 9 14 0 45
CYP1B1, RMDN2 0 0 34 4 2 0 40
CHRDL1 13 1 2 0 0 0 16
TELO2 7 2 8 0 0 0 15
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
USH2A 0 1 7 0 0 0 8
C12orf29, CEP290 0 0 6 1 0 0 7
TCF4 4 1 2 0 0 0 7
ZEB1 6 1 2 0 1 0 7
COL17A1 4 0 2 0 0 0 6
NLRP1 4 0 2 0 0 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
KRT3 3 0 1 0 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
AGBL1 2 0 2 0 0 0 3
CNGB3 3 0 0 0 0 0 3
COL8A2 3 0 0 0 0 0 3
POLA1 1 0 2 0 0 0 3
RP2 2 1 0 0 0 0 3
TUBB4B 2 2 1 0 0 0 3
ABCA4 1 1 0 0 0 0 2
ADAMTS18 0 0 2 0 0 0 2
AHI1 2 0 0 0 0 0 2
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 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
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ANKRD34C, MIR184 1 0 0 0 0 0 1
ARG2, ATP6V1D, EIF2S1, FAM71D, FUT8, GPHN, PALS1, PIGH, PLEK2, PLEKHH1, RAD51B, RDH11, RDH12, TMEM229B, VTI1B, ZFYVE26 0 0 1 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
BUB1B-PAK6, PAK6 0 0 1 0 0 0 1
CC2D2A 1 0 0 0 0 0 1
CDHR1 1 0 0 0 0 0 1
CEP152, FBN1, FBN1-DT, LOC113939944 1 0 0 0 0 0 1
CFAP410 1 0 0 0 0 0 1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 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
COL9A1 0 0 0 1 0 0 1
COPB2-DT, RBP1 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, 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 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
LCA5, SH3BGRL2 1 0 0 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
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
TGFB2 0 1 0 0 0 0 1
VANGL1 0 0 1 0 0 0 1
WDR19 0 1 0 0 0 0 1
WNT1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1090 278 1685 815 236 0 4101
Illumina Clinical Services Laboratory,Illumina 5 2 2132 365 578 0 3073
Center for Medical Genetics Ghent,University of Ghent 176 358 175 14 0 0 722
Natera, Inc. 47 6 211 53 58 0 375
Laboratory of Genetics in Ophthalmology,Institut Imagine 234 130 7 1 0 0 372
OMIM 302 0 4 0 0 0 306
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 57 88 0 0 0 0 145
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 8 41 20 7 15 0 91
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
Ocular Genomics Institute, Massachusetts Eye and Ear 15 21 10 0 0 0 46
Baylor Genetics 8 4 33 0 0 0 45
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 10 16 2 0 0 35
Willoughby Group, Queen's University Belfast 17 8 0 0 8 0 33
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 5 16 2 0 0 31
Institute of Vision Research, Yonsei University College of Medicine 17 11 0 0 0 0 28
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 20 0 3 0 0 0 23
Molecular Diagnostics Laboratory,Seoul National University Hospital 10 0 12 0 0 0 22
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 8 12 2 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
Broad Institute Rare Disease Group, Broad Institute 6 8 5 1 0 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
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 7 0 0 0 12
Institute of Human Genetics,Polish Academy of Sciences 0 0 12 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 1 4 0 11
Institute of Human Genetics,Cologne University 3 5 2 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
Institute of Human Genetics, University of Leipzig Medical Center 2 3 4 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
Genetics Department, University Hospital of Toulouse 7 0 1 0 0 0 8
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 2 0 0 0 0 7
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 1 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 6 0 0 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 2 1 0 0 0 7
Institute of Human Genetics, Klinikum rechts der Isar 6 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 1 3 1 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 2 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
Mayo Clinic Laboratories, Mayo Clinic 2 0 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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 Fairview: 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 1 2 0 0 0 4
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 1 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
Pars Genome Lab 0 0 0 3 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 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
Leeds Institute of Medical Research,University of Leeds 2 0 0 0 0 0 2
Nilou-Genome Lab 0 0 0 1 1 0 2
MNM Diagnostics 1 0 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 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
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 of Human Genetics, Uniklinik RWTH Aachen 0 0 1 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 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
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Pediatrics Department,University of Wisconsin 1 0 0 0 0 0 1
Breda Genetics srl 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
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 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
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology,Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
Shen lab, Institute for Cardiovascular Science,Soochow University 0 1 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine,University of Debrecen 1 0 0 0 0 0 1

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