ClinVar Miner

Variants studied for corneal dystrophy

Included ClinVar conditions (46):
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
144 40 786 156 386 7 1476

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHST6 18 5 152 32 50 0 246
PIKFYVE 7 3 75 11 81 0 177
GSN 6 2 77 44 44 0 162
SLC4A11 20 6 87 5 26 0 138
ELP4, PAX6 1 0 57 1 37 0 96
TGFBI 13 7 52 10 11 0 91
UBIAD1 10 1 51 4 25 0 91
VSX1 0 0 34 8 27 0 68
CYP4V2, KLKB1 0 0 54 3 7 0 64
TACSTD2 9 0 22 5 17 0 53
CYP4V2 0 0 35 5 6 0 46
DCN 4 0 19 9 14 5 46
PAX6 2 0 16 5 6 0 29
COL17A1 5 2 4 2 14 1 28
TCF4 8 2 4 2 3 0 19
NLRP1 4 0 6 4 3 1 18
ZEB1 10 6 1 2 1 0 17
KRT12 8 1 3 0 2 0 14
CYP4V2, LOC129993526 0 0 6 1 3 0 10
GRHL2 2 3 3 1 3 0 10
OVOL2 4 0 1 0 2 0 7
COL8A2 3 0 0 0 2 0 5
KRT3, LOC126861527 3 2 0 0 0 0 5
LOC106014249, PAX6 0 0 4 0 1 0 5
AGBL1 2 0 3 1 0 0 4
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
CHST6, LOC130059434 0 0 2 0 0 0 2
MCOLN1 2 0 0 0 0 0 2
TBCD 0 0 2 0 0 0 2
AGBL1, LOC102724452 0 0 1 0 0 0 1
BCAR1, CFDP1, CHST6, CTRB1, CTRB2, FA2H, LDHD, TMEM170A, WDR59, ZFP1, ZNRF1 1 0 0 0 0 0 1
ITPA, SLC4A11 0 0 1 0 0 0 1
KRT3 0 0 1 0 0 0 1
LOC129994706, TGFBI 0 0 1 0 0 0 1
LOC130003630, ZEB1 1 0 0 0 0 0 1
LOC130065323, SLC4A11 0 0 1 0 0 0 1
PRDX3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 3 1 666 92 333 0 1095
Fulgent Genetics, Fulgent Genetics 7 5 66 48 0 0 126
OMIM 102 0 1 0 0 0 103
Genome-Nilou Lab 0 0 0 1 68 0 69
Invitae 9 0 28 14 14 0 65
Genetics and Molecular Pathology, SA Pathology 12 7 4 0 0 0 23
Mendelics 2 1 5 0 2 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 4 0 0 0 7
3billion 1 3 2 0 0 0 6
Revvity Omics, Revvity 0 1 4 0 0 0 5
MGZ Medical Genetics Center 2 0 3 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute 2 1 2 0 0 0 5
Baylor Genetics 0 1 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 3 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 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
Hardcastle Lab, UCL Institute of Ophthalmology 0 3 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 1 0 3
New York Genome Center 1 0 2 0 0 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
DBGen Ocular Genomics 0 3 0 0 0 0 3
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 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
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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
DASA 0 1 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 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
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 0 1

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