ClinVar Miner

Variants studied for Retinitis pigmentosa

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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 likely risk allele not provided total
773 678 3020 426 629 1 6 5409

Gene and significance breakdown #

Total genes and gene combinations: 189
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
EYS 80 71 178 28 38 0 0 365
USH2A 60 100 150 8 14 0 3 319
CNGB1 18 23 149 21 29 0 0 234
PCARE 11 6 144 20 46 0 0 227
PDE6A 22 15 120 11 20 0 0 185
PDE6B 24 16 110 12 7 0 0 164
IMPG2 9 5 127 10 13 0 0 163
CRX 3 5 65 24 42 0 0 139
RP1 27 21 60 11 15 0 0 131
RPGR 70 50 1 2 0 0 0 121
PRPF8 7 3 67 15 29 0 0 119
PRPH2 14 22 48 9 26 0 1 118
PROM1 4 3 96 3 10 0 0 116
RHO 19 22 51 12 13 0 1 115
CRB1 22 21 62 10 3 0 0 114
PRPF31 31 27 35 8 13 0 0 113
SNRNP200 7 6 63 17 14 0 0 105
RBP3 2 0 85 5 9 0 0 101
FAM161A 11 6 65 8 12 0 0 98
LRAT 1 2 71 4 7 0 0 85
MERTK 8 10 47 6 12 0 0 83
ABCA4 53 25 2 0 0 0 0 79
RPE65 9 2 56 5 7 0 0 79
TOPORS 5 2 44 9 13 0 0 72
NR2E3 10 10 34 9 4 0 0 67
IMPDH1 1 4 41 13 8 0 0 66
AIPL1 1 1 45 5 12 0 0 64
PRPF6 1 1 38 8 15 0 0 63
CNGA1, LOC101927157 12 12 35 2 2 0 1 61
DHDDS 1 2 49 3 5 0 0 60
RLBP1 7 6 41 4 3 0 0 60
SEMA4A 1 0 32 13 14 0 0 60
TULP1 6 8 41 1 5 0 0 60
CYGB, PRCD 3 2 46 2 5 0 0 58
CFAP418 1 1 40 8 3 0 0 53
CERKL 8 13 24 3 7 0 0 51
SAG 3 1 35 4 8 0 0 51
EYS, PHF3 14 18 20 3 1 0 0 50
KLHL7 1 3 27 10 9 0 0 49
RP2 9 8 19 2 11 0 0 49
ROM1 1 0 30 10 5 0 0 45
SPATA7 2 0 34 0 8 0 0 44
GUCA1B 0 0 27 6 10 0 0 43
TTC8 0 0 37 2 3 0 0 42
CERKL, ITGA4 0 0 31 1 7 0 0 39
IDH3B 0 0 30 1 2 0 0 33
PRPF3 3 0 20 4 7 0 0 33
BEST1 2 1 21 4 4 0 0 32
NRL 2 1 15 6 8 0 0 32
RGR 0 1 25 0 6 0 0 32
CA4 1 0 11 9 7 0 0 28
PDE6G 2 0 14 3 8 0 0 27
ZNF513 0 0 25 2 0 0 0 27
LOC126860392, RP1 2 3 12 3 5 0 0 25
ARL6 1 1 20 2 0 0 0 24
GPHN, RDH12, ZFYVE26 4 3 14 2 1 0 0 24
MAK 5 12 7 0 0 0 0 23
CEP290 12 2 8 0 0 0 0 22
GPHN, RDH12 5 5 8 1 3 0 0 22
BEST1, FTH1 0 0 9 6 3 0 0 18
GUCA1A, GUCA1B 0 0 0 0 17 0 0 17
CLN3 6 6 3 0 0 0 0 14
RP9 0 0 5 1 6 0 0 12
SNX17, ZNF513 0 0 11 0 1 0 0 12
CDHR1 5 5 2 0 0 0 0 11
BBS1, ZDHHC24 6 4 1 0 0 0 0 10
BBS2 6 2 2 0 0 0 0 10
LOC130068202, RP2 4 1 3 2 0 0 0 10
AHI1 4 4 1 0 0 0 0 9
IMPDH1, LOC129999258 1 0 8 0 1 0 0 9
LOC122152296, USH2A 2 2 5 1 1 0 0 9
IFT140, LOC105371046 3 5 0 0 0 0 0 8
LOC129933377, ZNF513 0 0 7 1 0 0 0 8
MYO7A 2 3 3 0 0 0 0 8
ABCA4, LOC126805793 5 3 1 0 0 0 0 7
CERKL, LOC129935215 1 0 6 0 0 0 0 7
CNGA1 0 0 6 0 1 0 0 7
IFT140 4 3 1 0 0 0 0 7
LOC130056226, SPATA7 0 0 6 0 1 0 0 7
RPGRIP1 3 4 0 0 0 0 0 7
ALMS1 3 3 0 0 0 0 0 6
CFAP418, LOC130000784 0 0 5 1 0 0 0 6
FLVCR1 4 0 2 0 0 0 0 6
LOC130055387, NRL 2 0 4 0 1 0 0 6
RCBTB1 0 4 2 0 0 0 0 6
ADGRV1 0 2 3 0 0 0 0 5
CLRN1 3 2 1 0 0 0 0 5
COQ8B 0 4 0 0 0 1 0 5
FAM161A, LOC129933843 0 1 3 1 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 0 5
BBS1 2 1 2 0 0 0 0 4
BBS4 2 1 1 0 0 0 0 4
CACNA1F 0 1 2 1 0 0 0 4
CDH23 1 2 1 0 0 0 0 4
GNAT1 2 0 2 0 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 0 4
IMPG1 2 1 1 0 0 0 0 4
LCA5 4 0 0 0 0 0 0 4
SMIM27, TOPORS 0 0 2 1 1 0 0 4
VPS13B 3 0 0 0 1 0 0 4
AGBL5 1 0 2 0 0 0 0 3
ARL2BP 3 0 0 0 0 0 0 3
BBS12 0 2 1 0 0 0 0 3
CERKL, LOC129935214 1 0 1 1 0 0 0 3
CFAP410 2 1 0 0 0 0 0 3
CHM 2 1 0 0 0 0 0 3
CNGB3 1 0 2 0 0 0 0 3
CYP4V2 2 1 0 0 0 0 0 3
HGSNAT 2 1 1 0 0 0 0 3
IMPDH1, LOC107986845 0 0 3 0 0 0 0 3
LOC112806037, MERTK 1 0 2 0 0 0 0 3
LOC126806272, SNRNP200 0 0 1 1 1 0 0 3
LOC126863090, PRPF6 0 0 2 0 1 0 0 3
PANK2 2 0 1 0 0 0 0 3
PHYH 2 2 0 0 0 0 0 3
PITPNM3 0 0 2 1 0 0 0 3
RP1L1 0 2 1 0 0 0 0 3
TTLL5 3 0 0 0 0 0 0 3
ADAMTS18 0 0 1 0 1 0 0 2
ARL3 2 0 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 0 2
BBS7 1 1 0 0 0 0 0 2
CDH3 0 2 0 0 0 0 0 2
CNNM4 0 0 2 0 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 0 2
GPR179 0 0 2 0 0 0 0 2
GUCA1A, GUCA1ANB-GUCA1A 0 2 0 0 0 0 0 2
GUCY2D 2 0 0 0 0 0 0 2
IDH3A 2 2 0 0 0 0 0 2
IQCB1 0 2 0 0 0 0 0 2
KIAA1549 1 0 0 1 0 0 0 2
KIZ, LOC130065509 2 0 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 0 2
LOC129933376, ZNF513 0 0 2 0 0 0 0 2
LOC129998225, RP9 0 0 1 1 0 0 0 2
NPHP4 0 2 0 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 2
RIMS1 0 0 2 0 0 0 0 2
SAMD11 0 0 2 0 0 0 0 2
SLC24A1 2 0 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 0 2
USH1C 2 0 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 0 2
WDR19 0 0 2 0 0 0 0 2
ADAM9 1 0 0 0 0 0 0 1
ADGRA3 0 1 0 0 0 0 0 1
ADIPOR1 0 0 1 0 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 0 0 1
BBS9 0 1 0 0 0 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 0 0 1
CACNA2D4 1 0 0 0 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 0 1
CFAP410, LOC130066823 1 1 0 0 0 0 0 1
COL18A1 0 1 0 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 1
CRX, TPRX2 0 0 0 1 0 0 0 1
CRYGS 1 0 0 0 0 0 0 1
CWC27 1 0 0 0 0 0 0 1
DHX38 0 1 0 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 0 0 1
GIGYF2, KCNJ13 0 1 0 0 0 0 0 1
GLDC 1 0 0 0 0 0 0 1
HK1 0 1 0 0 0 0 0 1
IFT172 0 0 1 0 0 0 0 1
IFT172, KRTCAP3 1 0 0 0 0 0 0 1
IFT172, LOC126806173 0 0 1 0 0 0 0 1
IFT88 0 0 1 0 0 0 0 1
KIF11 1 0 0 0 0 0 0 1
KIZ 1 0 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 0 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 0 0 1
LOC130066413, PRPF6 0 0 0 0 1 0 0 1
LOC130068098, RPGR 1 0 0 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 0 1
NYX 0 0 1 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 1
OR4F5 0 0 1 0 0 0 0 1
P3H2 1 0 0 0 0 0 0 1
PCDH15 0 1 0 0 0 0 0 1
POC5 0 0 1 0 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 0 1
PRPF31, TFPT 0 1 0 0 0 0 0 1
PRPF8, RILP 0 1 1 0 0 0 0 1
SCAPER 1 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 likely risk allele not provided total
Illumina Laboratory Services, Illumina 5 6 2781 391 609 0 0 3792
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 72 145 70 0 0 0 0 287
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 73 105 63 0 0 0 0 241
Molecular Genetics Laboratory, Institute for Ophthalmic Research 233 1 0 0 2 0 0 236
Sharon lab, Hadassah-Hebrew University Medical Center 144 74 0 0 0 0 0 218
NIHR Bioresource Rare Diseases, University of Cambridge 38 152 22 2 0 0 0 214
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 105 71 0 0 0 0 0 176
Natera, Inc. 20 6 40 26 40 0 0 132
Department of Ophthalmology and Visual Sciences Kyoto University 34 57 0 0 0 0 0 91
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 37 30 5 0 0 1 0 73
Mendelics 36 8 4 5 3 0 0 56
INSERM U1051, Institut des Neurosciences de Montpellier 14 14 9 0 0 0 0 37
DBGen Ocular Genomics 3 6 18 0 1 0 0 28
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 16 8 0 0 0 0 0 24
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 5 11 3 0 0 0 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 1 7 0 0 0 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 5 0 0 0 0 0 11
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 0 0 8
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 3 3 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 0 7
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 2 5 0 0 0 0 7
Center for Medical Genetics Ghent, University of Ghent 0 4 2 0 0 0 0 6
Rui Chen Lab, Baylor College of Medicine 2 0 0 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 0 4
Leeds Institute of Medical Research, University of Leeds 4 0 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 3 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital 2 0 0 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 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 0 1 1
Personalis, Inc. 1 0 0 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Leiden Open Variation Database 0 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 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 0 1

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