ClinVar Miner

Variants studied for corneal disease

Included ClinVar conditions (107):
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
957 739 1716 681 305 4 4195

Gene and significance breakdown #

Total genes and gene combinations: 138
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 501 646 528 203 65 1 1783
ZNF469 21 8 187 53 35 0 300
CHST6 7 0 91 16 18 0 129
CEP290 31 5 76 7 4 0 123
TGFBR2 19 1 55 37 12 0 123
PIKFYVE 5 1 35 43 29 0 113
CRX 5 3 35 40 26 0 108
AIPL1 11 1 49 35 4 0 95
RD3 5 0 78 8 2 0 93
RPGRIP1 23 7 33 10 9 0 77
CRB1 16 5 22 27 7 0 73
ELP4, PAX6 3 1 31 24 12 0 71
LCA5 6 0 52 4 2 0 64
UBIAD1 10 0 29 19 6 0 64
TMPO 0 0 34 15 14 0 63
RPE65 18 7 19 13 4 0 56
LRAT 3 0 44 7 0 0 54
CYP1B1 3 0 31 4 6 1 45
VSX1 2 0 14 24 7 0 45
PRDM5 6 0 32 3 3 0 44
SPATA7 10 1 21 10 1 0 42
ALDH18A1 8 3 17 5 8 1 41
PAX6 23 0 7 10 2 0 41
GIGYF2, KCNJ13 5 1 29 4 0 0 38
TULP1 15 0 17 3 3 0 38
DCN 4 0 10 13 5 0 32
IMPDH1 2 0 22 8 0 0 32
GUCY2D 15 7 4 0 5 0 30
FBN1, LOC113939944 13 7 5 4 1 0 27
PXDN 4 0 5 3 11 0 23
SLC4A11 21 1 1 0 0 0 23
CYP1B1, RMDN2 0 0 15 3 0 0 18
NMNAT1 11 6 0 2 0 0 18
PITX2 0 0 8 9 1 0 18
TGFBI 13 1 5 0 0 0 18
GPHN, RDH12 12 3 0 0 0 0 15
KERA 6 3 0 0 0 0 8
KRT12 8 0 0 0 0 0 8
TACSTD2 8 0 0 0 0 0 8
CHRDL1 7 0 0 0 0 0 7
GDF6 4 0 0 1 2 0 7
TELO2 6 2 0 0 0 0 7
USH2A 0 0 7 0 0 0 7
PYCR1 5 0 1 0 0 0 6
ZEB1 6 0 0 0 0 0 6
C12orf29, CEP290 0 0 4 1 0 0 5
MTOR, UBIAD1 0 0 2 2 1 0 5
NLRP1 4 0 1 0 0 0 5
TCF4 3 0 2 0 0 0 5
COL5A2 0 0 4 0 0 0 4
GPHN, RDH12, ZFYVE26 3 1 0 0 0 0 4
IQCB1 2 2 0 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
CNGB3 3 0 0 0 0 0 3
COL8A2 3 0 0 0 0 0 3
GRHL2 2 3 0 0 0 0 3
GSN 2 0 1 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 0 0 0 0 2
COL17A1 2 0 0 0 0 0 2
FBN2 0 1 1 0 0 0 2
IMPDH1, LOC107986845 0 0 1 1 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
PTCH1 0 2 0 0 0 0 2
TBCD 0 0 2 0 0 0 2
TUBB4B 2 2 0 0 0 0 2
AHI1 1 0 0 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
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
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
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
KCNQ1 0 1 0 0 0 0 1
LOC100507291, RBP1 0 0 1 0 0 0 1
LOC102723833, USH2A 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
PDE6A 1 0 0 0 0 0 1
PEX1 0 0 0 0 0 1 1
PIK3CG 0 0 1 0 0 0 1
PITRM1 0 0 0 1 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
PRPF8 0 0 0 1 0 0 1
PTK6 0 0 1 0 0 0 1
RARG 0 0 0 1 0 0 1
RDH12 1 0 0 0 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
TGFBR1 0 0 0 1 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: 84
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 1 1057 511 182 0 1755
Invitae 326 114 337 143 115 0 1035
Center for Medical Genetics Ghent,University of Ghent 172 352 175 14 0 0 712
OMIM 304 0 4 0 0 0 308
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 52 83 0 0 0 0 135
Center for Human Genetics, Inc 33 34 23 17 0 0 107
Integrated Genetics/Laboratory Corporation of America 6 44 22 8 15 0 95
Fulgent Genetics 28 5 49 0 0 0 82
Blueprint Genetics, 9 35 13 1 0 0 58
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 7 13 0 0 0 27
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 Diagnostics Laboratory,Seoul National University Hospital 10 0 12 0 0 0 22
CSER_CC_NCGL; University of Washington Medical Center 0 0 14 6 1 0 21
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 19 0 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 19 0 20
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 12 6 0 0 0 0 18
Rui Chen Lab,Baylor College of Medicine 15 2 0 0 0 0 17
Counsyl 2 0 2 9 2 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 7 2 5 0 0 0 14
Human Genetics - Radboudumc,Radboudumc 11 0 3 0 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 0 0 0 0 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 3 7 0 0 0 13
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2 5 6 0 0 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 5 6 1 0 0 0 12
Institute of Human Genetics,Polish Academy of Sciences 0 0 12 0 0 0 12
Paul Sabatier University EA-4555, Paul Sabatier University 0 2 0 8 0 0 10
Molecular Genetics Laboratory,Institute for Ophthalmic Research 6 0 3 0 0 0 9
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 7 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 2 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 3 1 1 1 0 6
Baylor Genetics 3 0 2 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Institute of Human Genetics,Cologne University 1 2 2 0 0 0 5
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 5 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 3 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 4 0 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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 3 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 4 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 0 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 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
HudsonAlpha Institute for Biotechnology 2 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Hardcastle Lab,UCL Institute of Ophthalmology 0 3 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital 1 0 1 0 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
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
Institute for Ophthalmic Research,University Tuebingen 1 0 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 0 1 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1
Laboratoire de Cytogenetique,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

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