ClinVar Miner

Variants studied for myopia

Included ClinVar conditions (39):
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
51 19 33 1 13 113

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
P3H2 4 2 2 0 6 13
NCAPH2, SCO2 4 1 8 0 0 12
CPSF1 3 2 3 0 0 8
SLC39A5 2 1 2 0 2 7
ZNF644 3 0 4 0 0 7
ARR3 4 0 0 0 1 5
P4HA2 3 0 1 1 0 5
CNP 4 0 0 0 0 4
FBN1 3 1 0 0 0 4
​intergenic 1 0 2 0 0 3
ZNF469 0 0 3 0 0 3
CEMIP2 2 0 0 0 0 2
CNP, LOC130060859 2 0 0 0 0 2
COL4A4 0 2 0 0 0 2
DOK1, LOXL3 2 0 0 0 0 2
LOC129938149, P3H2 1 1 0 0 0 2
LRPAP1 2 0 0 0 0 2
NCAPH2, SCO2, TYMP 0 0 0 0 2 2
TYR 2 0 0 0 0 2
VPS13B 0 2 0 0 0 2
ACTB, FBXL18, RBAK, RBAK-RBAKDN, SLC29A4, TNRC18, WIPI2 1 0 0 0 0 1
AFF2 0 0 1 0 0 1
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TOM1L2, TOP3A 1 0 0 0 0 1
CACNA1F 0 1 0 0 0 1
CHD7 1 0 0 0 0 1
COL11A1 0 1 0 0 0 1
COL2A1 1 0 0 0 0 1
CPSF1, MIR939 1 0 0 0 0 1
EP300 0 0 1 0 0 1
FLNA 0 0 1 0 0 1
LOC126806953, LRPAP1 1 1 0 0 0 1
LOC129992120, LRPAP1 1 0 0 0 0 1
LOC130067861, SCO2, TYMP 0 0 0 0 1 1
LOXL3 1 0 0 0 0 1
MT-TL1 0 0 1 0 0 1
MYH11, NDE1 0 1 0 0 0 1
POGZ 0 1 0 0 0 1
PRIMPOL 1 0 1 0 0 1
PTCH1 0 0 1 0 0 1
RSRC2 0 1 0 0 0 1
SCO2 0 0 0 0 1 1
SLC25A4 0 1 0 0 0 1
SLC39A13 0 0 1 0 0 1
TNC 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 29 0 0 0 0 29
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 8 9 0 0 25
Fulgent Genetics, Fulgent Genetics 0 0 9 1 1 11
Genome-Nilou Lab 0 0 0 0 11 11
Department of Animal Sciences, Quaid-i-Azam University 6 0 0 0 0 6
Revvity Omics, Revvity 0 1 4 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 1 5
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 2
3billion 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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