ClinVar Miner

Variants studied for corneal dystrophy (disease)

Included ClinVar conditions (38):
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 total
123 11 711 111 358 1278

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CHST6 7 0 135 23 46 208
PIKFYVE 5 1 76 12 80 174
SLC4A11 23 1 90 18 34 144
CYP4V2 0 0 95 9 16 120
ELP4, PAX6 1 0 57 1 37 96
TGFBI 13 2 57 10 11 91
UBIAD1 10 0 51 4 23 88
GSN 2 0 27 8 42 79
VSX1 0 0 34 8 27 68
TACSTD2 8 0 22 5 17 52
DCN 4 0 18 9 14 45
PAX6 2 0 15 4 7 28
TELO2 7 2 8 0 0 15
KRT12 8 0 0 0 0 8
MTOR, UBIAD1 0 0 6 0 2 8
TCF4 4 1 2 0 0 7
ZEB1 6 1 2 0 1 7
COL17A1 4 0 2 0 0 6
NLRP1 4 0 2 0 0 6
GRHL2 2 3 0 0 1 4
KRT3 3 0 1 0 0 4
LOC106014249, PAX6 0 0 4 0 0 4
OVOL2 4 0 0 0 0 4
AGBL1 2 0 2 0 0 3
COL8A2 3 0 0 0 0 3
POLA1 1 0 2 0 0 3
TBCD 0 0 2 0 0 2
ITPA, SLC4A11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 1 666 92 333 1095
OMIM 109 0 1 0 0 110
Natera, Inc. 1 0 14 14 24 53
Invitae 0 0 8 5 9 22
Baylor Genetics 1 1 8 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 6 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 4 0 0 7
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 6
Mendelics 0 0 4 0 1 5
Fulgent Genetics,Fulgent Genetics 3 1 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 3 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Hardcastle Lab,UCL Institute of Ophthalmology 0 3 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
SNPedia 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Department of Ophthalmology,Flinders Medical Centre 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1

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