ClinVar Miner

Variants studied for Retinitis pigmentosa

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
834 718 3046 426 629 7 5526

Gene and significance breakdown #

Total genes and gene combinations: 200
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EYS 91 70 176 28 38 0 373
USH2A 60 100 153 8 14 3 322
CNGB1 19 23 149 21 29 0 235
PCARE 13 6 144 20 46 0 229
PDE6A 22 15 120 11 20 0 185
PDE6B 25 17 110 12 7 0 165
IMPG2 10 5 127 10 13 0 164
CRX 3 6 65 24 42 0 140
RP1 28 23 60 11 15 0 134
RPGR 73 50 1 2 0 0 122
PRPF8 7 3 67 15 29 0 119
PRPH2 14 22 48 9 26 1 118
CRB1 22 22 64 10 3 0 116
PROM1 4 3 96 3 10 0 116
RHO 19 23 51 12 13 1 115
PRPF31 32 27 35 8 13 0 114
ABCA4 64 41 3 0 0 0 107
SNRNP200 7 6 63 17 14 0 105
RBP3 2 0 87 5 9 0 103
FAM161A 11 6 65 8 12 0 98
LRAT 1 3 71 4 7 0 85
MERTK 8 10 48 6 12 0 84
RPE65 9 2 56 5 7 0 79
TOPORS 5 2 44 9 13 0 72
NR2E3 11 10 35 9 4 0 68
AIPL1 1 2 46 5 12 0 66
IMPDH1 1 4 41 13 8 0 66
CNGA1, LOC101927157 15 12 35 2 2 1 64
PRPF6 1 1 38 8 15 0 63
RLBP1 8 7 41 4 3 0 61
DHDDS 1 2 49 3 5 0 60
GUCA1B 0 0 27 6 27 0 60
SEMA4A 1 0 32 13 14 0 60
TULP1 6 8 41 1 5 0 60
CYGB, PRCD 4 2 46 2 5 0 59
CERKL 10 16 24 3 7 0 56
EYS, PHF3 20 16 20 3 1 0 54
CFAP418 1 1 40 8 3 0 53
SAG 3 1 35 4 8 0 51
KLHL7 1 3 27 10 9 0 49
RP2 9 8 19 2 11 0 49
BEST1 2 1 26 9 7 0 45
ROM1 1 0 30 10 5 0 45
SPATA7 2 0 34 0 8 0 44
TTC8 1 0 37 2 3 0 43
CERKL, ITGA4 0 0 31 1 7 0 39
IDH3B 0 0 30 1 2 0 33
PRPF3 3 0 20 4 7 0 33
NRL 2 1 15 6 8 0 32
RGR 0 1 25 0 6 0 32
CA4 1 0 11 9 7 0 28
PDE6G 2 0 14 3 8 0 27
ZNF513 0 0 25 2 0 0 27
GPHN, RDH12, ZFYVE26 5 4 15 2 1 0 26
LOC126860392, RP1 2 4 12 3 5 0 26
ARL6 1 1 20 2 0 0 24
CEP290 12 2 10 0 0 0 24
MAK 6 11 8 0 0 0 24
GPHN, RDH12 5 6 8 1 3 0 23
CLN3 6 6 4 0 0 0 15
CDHR1 5 6 2 0 0 0 12
RP9 0 0 5 1 6 0 12
SNX17, ZNF513 0 0 11 0 1 0 12
BBS1, ZDHHC24 6 4 1 0 0 0 10
BBS2 6 2 2 0 0 0 10
LOC130068202, RP2 4 1 3 2 0 0 10
AHI1 4 4 1 0 0 0 9
IFT140, LOC105371046 5 5 0 0 0 0 9
IMPDH1, LOC129999258 1 0 8 0 1 0 9
LOC122152296, USH2A 2 2 5 1 1 0 9
LOC129933377, ZNF513 0 0 7 1 0 0 8
MYO7A 2 3 3 0 0 0 8
RPGRIP1 4 4 0 0 0 0 8
ABCA4, LOC126805793 5 3 1 0 0 0 7
ALMS1 4 3 0 0 0 0 7
CERKL, LOC129935215 1 0 6 0 0 0 7
CNGA1 0 0 6 0 1 0 7
IFT140 4 3 1 0 0 0 7
LOC130056226, SPATA7 0 0 6 0 1 0 7
ADGRV1 1 2 3 0 0 0 6
CFAP418, LOC130000784 0 0 5 1 0 0 6
FLVCR1 4 0 2 0 0 0 6
LOC130055387, NRL 2 0 4 0 1 0 6
RCBTB1 0 4 2 0 0 0 6
BBS1 3 1 2 0 0 0 5
BEST1, FTH1 0 0 4 1 0 0 5
CLRN1 3 2 1 0 0 0 5
COQ8B 0 5 0 0 0 0 5
FAM161A, LOC129933843 0 1 3 1 0 0 5
IMPG1 2 1 2 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 5
RP1L1 1 3 1 0 0 0 5
BBS4 2 1 1 0 0 0 4
CACNA1F 0 1 2 1 0 0 4
CDH23 1 2 1 0 0 0 4
CERKL, LOC129935214 1 1 1 1 0 0 4
GNAT1 2 0 2 0 0 0 4
HGSNAT 2 1 2 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 4
LCA5 4 0 0 0 0 0 4
TOPORS, TZMP1 0 0 2 1 1 0 4
VPS13B 3 0 0 0 1 0 4
ABCA4, LOC126805794 0 2 1 0 0 0 3
AGBL5 1 0 2 0 0 0 3
ARL2BP 3 0 0 0 0 0 3
BBS12 0 2 1 0 0 0 3
CEP76, PSMG2 0 3 0 0 0 0 3
CFAP410 2 1 0 0 0 0 3
CHM 2 1 0 0 0 0 3
CNGB3 1 0 2 0 0 0 3
CYP4V2 2 1 0 0 0 0 3
IMPDH1, LOC107986845 0 0 3 0 0 0 3
LOC112806037, MERTK 1 0 2 0 0 0 3
LOC126806272, SNRNP200 0 0 1 1 1 0 3
LOC126863090, PRPF6 0 0 2 0 1 0 3
PANK2 2 0 1 0 0 0 3
PHYH 2 2 0 0 0 0 3
PITPNM3 0 0 2 1 0 0 3
POMGNT1, TSPAN1 0 0 3 0 0 0 3
TTLL5 3 0 0 0 0 0 3
WDR19 0 1 2 0 0 0 3
ADAMTS18 0 0 1 0 1 0 2
ARL3 2 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 2
BBS7 1 1 0 0 0 0 2
CDH3 0 2 0 0 0 0 2
CNNM4 0 0 2 0 0 0 2
CWC27 2 0 0 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 2
GPR179 0 0 2 0 0 0 2
GUCA1A, GUCA1ANB-GUCA1A 0 2 0 0 0 0 2
GUCY2D 2 0 0 0 0 0 2
HK1 0 1 1 0 0 0 2
IDH3A 2 2 0 0 0 0 2
IQCB1 0 2 0 0 0 0 2
KIAA1549 1 0 0 1 0 0 2
KIZ, LOC130065509 2 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 2
LOC129933376, ZNF513 0 0 2 0 0 0 2
LOC129998225, RP9 0 0 1 1 0 0 2
NPHP4 0 2 0 0 0 0 2
PPT1 2 0 0 0 0 0 2
RIMS1 0 0 2 0 0 0 2
RNU4-2, SIRT4 2 0 0 0 0 0 2
RNU6-1 0 1 1 0 0 0 2
RNU6-2 1 0 1 0 0 0 2
RNU6-9 0 1 1 0 0 0 2
SAMD11 0 0 2 0 0 0 2
SLC24A1 2 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 2
USH1C 2 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 2
ADAM9 1 0 0 0 0 0 1
ADGRA3 0 1 0 0 0 0 1
ADIPOR1 0 0 1 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 0 1
BBS9 0 1 0 0 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 0 1
C1QTNF5, MFRP 0 0 1 0 0 0 1
CACNA2D4 1 0 0 0 0 0 1
CEP78 0 0 1 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC129388961, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, NEUROD1 0 1 0 0 0 0 1
CFAP410, LOC130066823 1 1 0 0 0 0 1
COL18A1 0 1 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 1
COL2A1 0 0 1 0 0 0 1
CRX, TPRX2 0 0 0 1 0 0 1
CRYGS 1 0 0 0 0 0 1
DHX38 0 1 0 0 0 0 1
EMC1 0 0 1 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 0 1
GIGYF2, KCNJ13 0 1 0 0 0 0 1
GLDC 1 0 0 0 0 0 1
IFT172 0 0 1 0 0 0 1
IFT172, KRTCAP3 1 0 0 0 0 0 1
IFT172, LOC126806173 0 0 1 0 0 0 1
IFT88 0 0 1 0 0 0 1
KIF11 1 0 0 0 0 0 1
KIZ 1 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 0 1
LOC130066413, PRPF6 0 0 0 0 1 0 1
LOC130068098, RPGR 1 0 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 1
NYX 0 0 1 0 0 0 1
OPA1 0 0 1 0 0 0 1
OR4F5 0 0 1 0 0 0 1
P3H2 1 0 0 0 0 0 1
PCDH15 0 1 0 0 0 0 1
POC5 0 0 1 0 0 0 1
PRPF31, TFPT 0 1 0 0 0 0 1
PRPF8, RILP 0 1 1 0 0 0 1
REEP6 0 1 0 0 0 0 1
RNU6-8 1 0 0 0 0 0 1
SCAPER 1 0 0 0 0 0 1
SLC7A14 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 5 6 2780 391 609 0 3791
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 72 145 70 0 0 0 287
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 73 105 63 0 0 0 241
Molecular Genetics Laboratory, Institute for Ophthalmic Research 233 1 0 0 2 0 236
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 138 89 0 0 0 0 227
Sharon lab, Hadassah-Hebrew University Medical Center 144 74 0 0 0 0 218
NIHR Bioresource Rare Diseases, University of Cambridge 38 152 22 2 0 0 214
Natera, Inc. 1 1 37 26 40 0 105
Department of Ophthalmology and Visual Sciences Kyoto University 34 57 0 0 0 0 91
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 41 33 8 0 0 0 82
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 29 21 23 0 0 0 73
Mendelics 36 8 4 5 3 0 56
INSERM U1051, Institut des Neurosciences de Montpellier 14 14 9 0 0 0 37
DBGen Ocular Genomics 3 6 18 0 1 0 28
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 16 8 0 0 0 0 24
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 5 11 3 0 0 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 1 7 0 0 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 5 0 0 0 0 11
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 7
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 2 5 0 0 0 7
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 3 3 0 0 0 7
Center for Medical Genetics Ghent, University of Ghent 0 4 2 0 0 0 6
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 2 4 0 0 0 6
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 4 1 1 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Leeds Institute of Medical Research, University of Leeds 4 0 0 0 0 0 4
Rui Chen Lab, Baylor College of Medicine 2 0 0 2 0 0 4
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 3 0 0 0 0 3
Dasa 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 2 0 0 0 0 0 2
Cellular and Molecular Research Center, Qom University of Medical Sciences 0 1 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Leiden Open Variation Database 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 1 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 1
Personalis, Inc. 1 0 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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