ClinVar Miner

Variants studied for age-related macular degeneration

Included ClinVar conditions (37):
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 protective risk factor other not provided total
234 249 882 212 241 2 12 1 7 1749

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other not provided total
ABCA4 176 220 69 6 2 0 0 1 5 404
HMCN1 1 0 265 66 59 0 0 0 0 390
ERCC6 3 0 85 25 14 0 0 0 0 127
C3 0 0 78 15 31 0 0 0 0 123
PROM1 3 0 56 29 25 0 0 0 1 113
CNGB3 2 1 78 8 20 0 0 0 0 109
CFH 1 0 41 13 28 0 6 0 0 87
RAX2 1 0 43 11 14 0 0 0 0 68
ELOVL4 3 1 39 6 19 0 0 0 0 66
FBLN5 11 1 33 10 12 0 0 0 0 63
C2 1 0 37 5 3 1 0 0 0 46
PRPH2 19 14 13 0 0 0 0 0 0 46
ARMS2 0 0 7 5 9 0 2 0 0 22
ERCC6, ERCC6-PGBD3 0 0 16 4 1 0 1 0 0 22
C2, CFB 1 0 3 5 3 1 0 0 0 13
ERCC6, ERCC6-PGBD3, PGBD3 1 0 7 3 0 0 0 0 0 11
MFSD8 3 5 4 0 0 0 0 0 0 11
BEST1 1 2 1 0 0 0 0 0 0 4
C9 0 0 1 0 0 0 1 0 0 2
CRB1 1 0 1 0 0 0 0 0 0 2
CRX 0 2 0 0 0 0 0 0 0 2
CX3CR1 0 0 1 0 0 0 1 0 0 2
ABCA4, LOC112590828 0 1 0 0 0 0 0 0 0 1
CFB 0 0 1 0 0 0 0 0 0 1
CFHR1, CFHR3 1 0 0 0 0 0 0 0 0 1
CFHR3 0 0 0 1 0 0 0 0 0 1
CFI 0 0 1 0 0 0 0 0 0 1
COL2A1 1 0 0 0 0 0 0 0 0 1
CST3 1 0 0 0 1 0 0 0 0 1
EYS 0 1 0 0 0 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 0 0 1
HTRA1 0 0 0 0 0 0 1 0 0 1
KCNV2 1 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 1
RHO 0 0 1 0 0 0 0 0 0 1
RP1L1 0 0 0 0 0 0 0 0 1 1
SNRNP200 0 0 1 0 0 0 0 0 0 1
TULP1 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 771 205 238 0 0 0 0 1215
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 0 0 0 177
Institute of Medical Molecular Genetics, University of Zurich 0 80 0 0 0 0 0 0 0 80
OMIM 52 0 1 0 0 2 12 0 0 67
Mendelics 28 6 11 4 5 0 0 0 0 54
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 15 29 7 0 0 0 0 0 0 51
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 18 14 13 0 0 0 0 0 0 45
NIHR Bioresource Rare Diseases, University of Cambridge 7 35 0 2 0 0 0 0 0 44
Sharon lab,Hadassah-Hebrew University Medical Center 29 14 0 0 0 0 0 0 0 43
Centre for Mendelian Genomics,University Medical Centre Ljubljana 17 8 16 0 0 0 0 0 0 41
Fulgent Genetics,Fulgent Genetics 14 6 17 0 0 0 0 0 0 37
Ocular Genomics Institute, Massachusetts Eye and Ear 16 8 7 0 0 0 0 0 0 31
Molecular Genetics Laboratory,Institute for Ophthalmic Research 12 0 0 0 0 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 0 0 0 12
Human Genetics - Radboudumc,Radboudumc 4 5 2 0 0 0 0 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 4 0 0 0 0 0 0 0 10
Baylor Genetics 5 2 0 0 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 7 7
Department of Ophthalmology and Visual Sciences Kyoto University 6 0 0 0 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 0 0 0 4
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 1 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 1 0 1 0 1 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 0 2
Department of Ophthalmology,California Pacific Medical Center 0 1 1 0 0 0 0 0 0 2
Molecular Vision Laboratory 0 0 0 0 0 0 0 1 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 1 0 0 0 0 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 1 0 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 1 0 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 1
Nilou-Genome Lab 1 0 0 0 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 0 0 0 1

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