ClinVar Miner

Variants studied for cone-rod dystrophy

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
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Gene type:
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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
677 305 2302 1426 574 16 5111

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GUCY2D 111 33 490 644 37 1 1301
RPGRIP1 105 34 453 313 39 2 894
AIPL1 55 17 232 205 39 7 507
CRX 86 17 195 92 72 0 447
ABCA4 112 86 34 1 20 3 241
CACNA2D4 4 3 106 22 66 1 194
CDHR1 13 10 128 11 11 0 168
PITPNM3 1 0 82 21 57 0 154
PROM1 20 13 57 23 38 1 146
RIMS1 0 1 68 21 51 0 141
PRPH2 5 2 37 8 35 0 87
SEMA4A 2 0 68 10 8 0 84
ADAM9 9 3 51 8 5 0 76
CFAP418 8 1 46 10 10 0 74
RAX2 4 1 39 5 25 0 73
POC1B 7 8 54 1 2 0 71
RLBP1 6 4 33 7 12 0 61
RPGR 23 21 9 5 5 0 61
GUCA1A, GUCA1ANB-GUCA1A 9 13 24 3 2 0 49
UNC119 1 0 13 4 14 0 32
CACNA1F 14 4 4 4 5 0 30
ABCA4, LOC126805793 7 6 4 0 2 0 18
TTLL5 10 2 1 0 3 1 17
CFAP418, LOC130000784 2 0 11 1 1 0 15
DRAM2 6 3 1 0 2 0 12
CIMIP3, GUCA1A, GUCA1ANB-GUCA1A 0 0 9 0 2 0 11
RAB28 5 4 1 0 0 0 9
USH2A 4 1 4 0 0 0 9
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 1 1 5 1 0 8
LOC130060555, UNC119 1 0 6 1 1 0 8
OPN1LW 4 0 2 0 2 0 8
LOC130008356, POC1B, POC1B-GALNT4 0 1 4 0 0 0 5
CEP78 4 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 4
CRB1 1 1 2 0 0 0 4
PBX3 0 3 1 0 0 0 4
ABCA4, LOC126805794 2 1 1 0 0 0 3
ADAM9, LOC130000261 1 0 1 0 1 0 3
CABP4 1 2 0 0 0 0 3
CERKL 2 1 0 0 0 0 3
GPHN, RDH12 2 1 0 0 0 0 3
LOC130008357, POC1B, POC1B-GALNT4 0 0 3 0 0 0 3
RPE65 0 0 3 0 0 0 3
ACBD5 0 0 2 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 2
CFAP410 0 1 1 0 0 0 2
CLN3 2 0 0 0 0 0 2
KCNV2 0 0 1 0 1 0 2
LOC129996707, RIMS1 0 0 1 0 1 0 2
LOC130060086, PITPNM3 0 0 1 0 1 0 2
NMNAT1 2 0 0 0 0 0 2
NR2E3 2 0 0 0 0 0 2
OPN1MW 2 0 0 0 0 0 2
PCARE 2 0 0 0 0 0 2
PIMREG, PITPNM3 0 0 1 0 1 0 2
RHO 1 0 1 0 0 0 2
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
AIPL1, PIMREG, PITPNM3 0 0 1 0 0 0 1
ALMS1 1 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 0 0 1 0 0 0 1
ARL6 0 0 1 0 0 0 1
BEST1 0 0 1 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541 0 0 1 0 0 0 1
C16orf92, TLCD3B 1 0 0 0 0 0 1
CACNA1F, LOC126863257 0 0 1 0 0 0 1
CEP290 0 1 0 0 0 0 1
CERKL, ITGA4 1 0 0 0 0 0 1
CERKL, LOC129935214 1 0 0 0 0 0 1
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 0 0 1 0 0 0 1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CRLF1 0 1 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
CRX, TPRX2 0 0 0 0 1 0 1
FAM161A 1 0 0 0 0 0 1
IMPG2 1 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 1
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
LOC129996708, RIMS1 0 0 1 0 0 0 1
LOC130060085, PITPNM3 0 0 0 0 1 0 1
LOC130068202, RP2 1 0 0 0 0 0 1
MFSD8 0 0 1 0 0 0 1
OPA1 0 0 1 0 0 0 1
PANK2 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
PDE6H 0 0 1 0 0 0 1
RBP3 1 0 0 0 0 0 1
SSBP1 1 0 0 0 0 0 1
TLCD3B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 325 47 1191 1220 119 0 2902
Illumina Laboratory Services, Illumina 0 0 875 164 409 0 1448
Fulgent Genetics, Fulgent Genetics 106 101 136 22 17 0 382
Genome-Nilou Lab 16 3 63 29 75 0 186
OMIM 106 0 1 0 0 0 107
Molecular Genetics Laboratory, Institute for Ophthalmic Research 32 0 4 0 0 0 36
Sharon lab, Hadassah-Hebrew University Medical Center 26 9 0 0 0 0 35
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 19 8 4 0 0 0 31
Mendelics 9 3 10 0 5 0 27
Institute of Human Genetics, University of Leipzig Medical Center 14 6 5 0 0 0 25
Juno Genomics, Hangzhou Juno Genomics, Inc 13 6 6 0 0 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 13 4 0 0 0 23
Laboratory of Genetics in Ophthalmology, Institut Imagine 20 2 1 0 0 0 23
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 6 9 0 0 0 21
3billion, Medical Genetics 6 11 4 0 0 0 21
Baylor Genetics 7 4 8 0 0 0 19
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 7 11 1 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 7 4 0 0 19
DBGen Ocular Genomics 6 4 9 0 0 0 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 11 1 1 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 0 6 0 0 0 16
SIB Swiss Institute of Bioinformatics 2 10 4 0 0 0 16
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 12 1 1 0 0 0 14
Institute of Medical Molecular Genetics, University of Zurich 1 12 0 0 0 0 13
Genetic Eye Disease Investigation Unit, University of Auckland 4 7 2 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 3 3 5 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 8 1 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 3 0 0 0 10
Revvity Omics, Revvity 4 4 1 0 0 0 9
MGZ Medical Genetics Center 4 4 1 0 0 0 9
GeneReviews 0 0 0 0 0 9 9
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 4 1 4 0 0 0 9
Genomics England Pilot Project, Genomics England 7 2 0 0 0 0 9
Ocular Genomics Institute, Massachusetts Eye and Ear 1 4 1 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 4 2 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 1 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 2 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 0 1 1 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Noruzinia Laboratory, Tarbiat Modares University 0 0 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1
Edmonton Ocular Genetics, Alberta Health Services 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 0 1 0 1
Department of Ophthalmology, California Pacific Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 1

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