ClinVar Miner

Variants studied for Retinal dystrophy

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 total
2262 2165 5407 587 645 10697

Gene and significance breakdown #

Total genes and gene combinations: 394
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 213 199 367 63 42 835
ABCA4 252 282 294 30 17 784
EYS 102 73 166 22 29 381
RPGR 139 91 84 3 10 312
RP1L1 7 17 191 42 31 286
CRB1 52 77 90 7 1 208
RP1 36 52 97 7 6 190
BEST1 69 66 38 7 9 186
CEP290 50 19 95 12 8 182
PRPH2 68 67 39 2 14 176
CNGB1 21 20 93 10 17 155
PDE6B 26 44 76 8 2 151
PROM1 35 25 79 9 4 145
PRPF31 42 49 39 6 13 144
RHO 41 52 49 3 8 142
IMPG2 24 37 66 10 4 136
PCARE 23 13 57 19 16 125
MERTK 21 17 64 6 9 114
MYO7A 39 33 37 1 1 109
KIAA1549 0 2 71 19 16 108
PRPF8 6 17 46 18 23 108
PDE6A 16 13 63 10 7 106
RBP3 3 7 79 13 5 106
SNRNP200 3 10 72 7 19 106
CHM 57 25 15 2 1 98
GUCY2D 21 24 42 2 1 88
IFT140 5 13 51 14 6 86
CDKL5, RS1 60 22 4 0 1 85
ADGRV1 20 17 47 0 0 84
NR2E3 19 20 36 10 6 84
TULP1 13 26 42 3 4 84
RPE65 25 14 41 3 1 82
ADGRA3 0 0 49 12 15 76
AGBL5 2 4 61 6 1 74
ALMS1 24 12 36 1 0 73
IMPDH1 0 12 45 5 12 71
IMPG1 3 5 33 2 29 71
CDH23 11 21 40 0 0 70
EYS, PHF3 12 18 38 2 2 67
CNGA3 32 21 13 1 0 65
DHX38 0 3 38 18 6 65
CERKL 15 14 27 5 4 63
CRX 12 20 22 3 10 61
MAK 5 16 30 7 2 60
CYP4V2 15 8 29 2 4 57
IFT140, LOC105371046 3 8 39 4 4 57
BBS2 13 8 30 2 4 56
EMC1 2 2 36 7 8 55
RPGRIP1 9 18 26 2 1 55
TOPORS 5 4 19 10 16 54
IFT172 2 2 42 7 0 52
CDHR1 7 13 33 0 0 51
HGSNAT 10 8 29 5 2 51
RP2 20 18 15 1 0 51
CNGB3 21 4 23 0 0 48
CACNA1F 10 10 25 1 1 47
ABCA4, LOC126805793 17 13 22 1 0 46
CNGA1, LOC101927157 8 9 28 1 1 46
SLC7A14 0 2 30 7 6 45
HK1 1 3 21 4 16 44
KCNV2 9 18 17 0 0 44
FSCN2 0 3 9 6 25 43
SPATA7 9 4 25 5 2 43
GPHN, RDH12 11 13 17 0 3 42
SEMA4A 0 2 26 2 13 42
POMGNT1, TSPAN1 5 2 27 5 1 40
FAM161A 10 4 18 3 4 39
LRP5 6 14 18 0 0 38
C1QTNF5, MFRP 8 7 23 0 0 37
PRPF6 0 2 19 5 11 36
ZNF408 3 4 24 5 1 36
CLRN1 6 6 23 0 1 35
TTC8 4 2 25 3 1 34
SAG 3 2 22 1 5 33
BBS1, ZDHHC24 8 6 16 3 1 31
PRPF3 2 2 21 3 3 31
TTLL5 6 7 19 0 0 31
PDE6C 8 10 12 0 0 30
DYNC2H1 1 1 27 0 0 29
AHI1 5 6 17 0 0 28
AIPL1 1 6 18 3 0 28
RIMS1 0 0 28 0 0 28
BBS1 7 4 14 1 1 26
KIZ 2 3 16 2 4 26
LOC126860392, RP1 2 4 16 2 3 26
ROM1 0 1 16 2 8 26
LOC122152296, USH2A 5 6 15 0 0 25
TRNT1 5 1 13 2 4 25
CEP78 7 7 10 0 0 24
GPHN, RDH12, ZFYVE26 5 7 10 2 0 24
GPR179 1 2 17 4 0 24
RLBP1 4 4 13 1 2 24
RGR 1 1 16 1 4 23
AP5Z1 4 0 18 0 0 22
CFAP410 5 7 12 0 0 22
TRPM1 4 8 11 0 0 22
ABCA4, LOC126805794 5 6 9 0 1 21
MVK 3 3 9 4 2 21
NPHP4 1 2 18 0 0 21
NYX 9 6 6 0 0 21
OFD1 1 0 12 6 2 21
CA4 0 2 6 2 10 20
CDH3 8 2 10 0 0 20
IFT140, LOC126862260 1 4 11 2 2 20
INPP5E 2 2 15 1 0 20
RS1 15 5 1 0 0 20
ZNF513 1 0 15 3 1 20
GUCA1A, GUCA1ANB-GUCA1A 5 7 7 0 0 19
IDH3B 0 0 19 0 0 19
LAMA1 2 0 17 0 0 19
NEK2 0 6 9 1 3 19
PCDH15 4 3 12 0 0 19
CABP4 2 3 13 0 0 18
CLN3 6 4 8 0 0 18
GUCA1B 0 0 8 1 9 18
KLHL7 2 2 10 0 4 18
LCA5 7 6 6 0 0 18
RAX2 0 3 15 0 0 18
SPP2 0 2 5 2 9 18
TUBGCP6 1 0 17 0 0 18
BBS12 4 9 4 0 0 17
CACNA2D4 2 1 14 0 0 17
DHDDS 0 2 14 0 1 17
NDP 14 2 1 0 0 17
POC1B, POC1B-DUSP6 3 1 13 0 0 17
SCLT1 1 3 13 0 0 17
VCAN 1 1 15 0 0 17
WDR19 1 2 14 0 0 17
CAPN5 0 0 15 0 0 15
CC2D2A 3 4 8 0 0 15
CEP250 2 0 13 0 0 15
CFAP418 1 3 9 1 1 15
FLVCR1 1 2 12 0 0 15
MFSD8 4 5 6 0 0 15
NAALADL1 0 0 15 0 0 15
NRL 2 6 6 1 0 15
SEMA6B 0 0 15 0 0 15
ARHGEF18 1 0 13 0 0 14
BBS9 6 0 8 0 0 14
IFT172, KRTCAP3 0 1 10 2 1 14
PITPNM3 0 0 14 0 0 14
ABCC6 4 0 9 0 0 13
BBS10 10 2 1 0 0 13
CFH 3 0 10 0 0 13
DRAM2 7 2 4 0 0 13
GRM6, ZNF454 4 2 7 0 0 13
IFT172, LOC126806173 0 1 10 1 1 13
IQCB1 11 1 1 0 0 13
KIF11 3 4 6 0 0 13
SAMD11 0 0 13 0 0 13
SYN3, TIMP3 5 2 6 0 0 13
ARL6 4 3 4 1 0 12
CNNM4 5 4 3 0 0 12
COL2A1 3 3 6 0 0 12
CTNNA1 0 1 11 0 0 12
EFEMP1 1 0 10 1 0 12
FZD4, PRSS23 2 3 7 0 0 12
GRK1 2 2 8 0 0 12
LRAT 3 2 6 0 1 12
NEUROD1 0 1 10 0 1 12
NMNAT1 7 5 1 0 0 12
RPGRIP1L 0 0 12 0 0 12
WFS1 2 2 8 0 0 12
ESPN 0 1 10 0 0 11
GNAT1 0 2 9 0 0 11
NBAS 1 0 10 0 0 11
PHYH 3 2 6 0 0 11
SCAPER 0 0 11 0 0 11
USH1C 4 2 5 0 0 11
BBS7 4 4 2 0 0 10
CEP164 1 1 8 0 0 10
CWC27 1 1 8 0 0 10
LOC130068202, RP2 4 2 4 0 0 10
MKKS 4 1 5 0 0 10
NPHP1 1 1 8 0 0 10
OAT 5 3 4 0 0 10
OPA1 5 2 3 0 0 10
PRPF4 0 1 9 0 0 10
RAB28 2 1 7 0 0 10
RP9 0 0 7 0 3 10
SLC24A1 3 3 5 0 0 10
USP45 0 0 10 0 0 10
WHRN 0 0 10 0 0 10
ARL2BP 1 1 5 1 1 9
BBS4 1 3 6 0 0 9
C3 0 0 8 1 0 9
GNAT2 2 2 5 0 0 9
IFT172, LOC126806174 0 0 8 0 1 9
PEX1 5 1 3 0 0 9
PNPLA6 2 2 5 0 0 9
PROS1 0 0 8 1 0 9
RCBTB1 1 1 7 0 0 9
SPG7 3 1 5 0 0 9
ABHD12 1 3 4 0 0 8
ADAMTS18 0 0 8 0 0 8
ARL3 0 0 3 0 5 8
ATF6 2 1 5 0 0 8
CHM, LOC129391306 3 2 2 0 1 8
COL11A1 0 0 8 0 0 8
CSPP1 0 0 8 0 0 8
IFT81 2 0 6 0 0 8
PDZD7 1 0 7 0 0 8
PRDM13 0 0 8 0 0 8
REEP6 1 1 6 0 0 8
ADIPOR1 0 0 5 1 1 7
C10orf105, CDH23 1 3 3 0 0 7
CEP290, RLIG1 1 1 5 0 0 7
CERKL, ITGA4 0 3 4 0 0 7
DHX38, LOC126862391 0 0 5 2 0 7
LOC112806037, MERTK 1 1 4 1 0 7
LOC130055387, NRL 0 3 4 0 0 7
PDE6G 1 0 5 0 1 7
RGS9 0 1 6 0 0 7
TSPAN12 2 4 1 0 0 7
ACO2 1 0 5 0 0 6
BEST1, FTH1 2 4 1 0 0 6
BLOC1S1-RDH5, CD63, RDH5 3 2 1 0 0 6
BLOC1S1-RDH5, RDH5 0 2 4 0 0 6
COL9A1 0 1 5 0 0 6
CYGB, PRCD 4 1 0 1 0 6
DTHD1 0 0 6 0 0 6
DYNC2I2 0 0 6 0 0 6
ELOVL4 1 0 5 0 0 6
IMPDH1, LOC129999258 0 0 5 0 1 6
KIZ, LOC130065507 0 1 3 1 1 6
MCAT 0 0 6 0 0 6
POMGNT1 0 0 6 0 0 6
PRPF31, TFPT 6 0 0 0 0 6
PRPS1 0 4 2 0 0 6
USH1G 0 0 6 0 0 6
AHR 0 0 5 0 0 5
ASTN2, TRIM32 1 0 4 0 0 5
ATXN7, LOC108660406, LOC129936979 0 0 5 0 0 5
COL18A1 0 5 0 0 0 5
FBLN5 0 0 5 0 0 5
GIGYF2, KCNJ13 0 0 5 0 0 5
INVS 0 0 5 0 0 5
KIF3B 0 0 5 0 0 5
PAX2 1 1 3 0 0 5
POC5 0 0 5 0 0 5
RD3 2 0 3 0 0 5
ADAM9 1 1 2 0 0 4
ATRIP, ATRIP-TREX1, TREX1 0 1 3 0 0 4
CACNA1F, LOC126863257 2 1 1 0 0 4
CERKL, LOC129935214 1 2 1 0 0 4
CFAP418, LOC130000784 0 0 3 0 1 4
GNPTG 2 0 2 0 0 4
HGSNAT, LOC130000316 0 2 1 1 0 4
HMX1 0 0 4 0 0 4
JAG1 0 1 3 0 0 4
LOC126806272, SNRNP200 0 1 2 0 1 4
LOC129932452, NEK2 0 0 3 0 1 4
MIEF1 0 0 4 0 0 4
MKS1 0 0 4 0 0 4
NPHP3, NPHP3-ACAD11 0 0 4 0 0 4
RBP4 1 1 2 0 0 4
RIC3, TUB 0 1 3 0 0 4
SDCCAG8 1 0 3 0 0 4
SLC4A7 0 0 4 0 0 4
TTPA 2 0 2 0 0 4
UBAP1L 4 0 0 0 0 4
ZNF423 0 0 4 0 0 4
ABHD12, LOC126863008 0 1 2 0 0 3
ALMS1, LOC126806252 0 0 3 0 0 3
ASRGL1 0 0 3 0 0 3
BBS5 1 1 2 0 0 3
CC2D2A, FBXL5 2 0 1 0 0 3
CCT2 0 0 3 0 0 3
CLUAP1 0 0 3 0 0 3
FAM161A, LOC129933843 0 0 1 1 1 3
GDF6 0 0 3 0 0 3
GRM6 0 0 3 0 0 3
HARS1 0 0 3 0 0 3
IDH3A 1 0 2 0 0 3
KIZ, LOC130065509 2 0 1 0 0 3
LOC129996881, PRDM13 0 0 2 1 0 3
LOC130068098, RPGR 2 1 0 0 0 3
MFN2 0 0 3 0 0 3
OTX2 0 0 3 0 0 3
PCYT1A 0 0 3 0 0 3
PLK4 0 0 3 0 0 3
RB1 0 0 3 0 0 3
RTN4IP1 1 0 2 0 0 3
ABHD12, LOC130065586 0 0 2 0 0 2
AFG3L2 0 0 2 0 0 2
ARSG 0 0 2 0 0 2
ATXN7 0 0 2 0 0 2
CIB2 0 1 1 0 0 2
CLCC1 0 1 1 0 0 2
COL11A2 0 1 1 0 0 2
COL18A1, SLC19A1 1 1 0 0 0 2
CYP4V2, LOC129993526 0 0 0 0 2 2
DYNC2I2, LOC126860772 0 0 2 0 0 2
FDXR 0 0 2 0 0 2
FZD4 1 0 1 0 0 2
IFT74 0 0 2 0 0 2
KIAA0586 1 0 1 0 0 2
LOC126806306, NPHP1 1 0 1 0 0 2
LOC126806932, PCYT1A 0 0 2 0 0 2
LOC126862088, TRPM1 0 0 2 0 0 2
LOC126862183, SCAPER 0 0 2 0 0 2
LOC126863090, PRPF6 0 1 0 0 1 2
LOC129998225, RP9 0 0 1 0 1 2
LOC130008357, POC1B, POC1B-DUSP6, POC1B-GALNT4 0 1 1 0 0 2
LRIT3 0 1 1 0 0 2
LRP2 0 2 0 0 0 2
PDE6H 1 0 1 0 0 2
PEX26 0 0 2 0 0 2
PEX6 0 0 2 0 0 2
PEX7 0 1 1 0 0 2
RGS9BP 0 0 2 0 0 2
TMEM216 0 0 2 0 0 2
TTC21B 1 1 0 0 0 2
TUB 0 0 2 0 0 2
TUBGCP4 0 0 2 0 0 2
VPS13B 0 2 0 0 0 2
WDPCP 0 0 2 0 0 2
YME1L1 0 0 2 0 0 2
ABCA4, LOC122094876, LOC126805793, LOC126805794, LOC126805795 1 0 0 0 0 1
ABCC6, LOC125146421 1 0 0 0 0 1
ACBD5 0 0 1 0 0 1
ACBD5, LOC130003557 0 0 1 0 0 1
ACO2, POLR3H 0 0 1 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 1
ARID5A, CNNM4, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC105373496, LOC112841608, LOC126806272, LOC126806273, LOC126806274, LOC129934338, LOC129934339, LOC129934340, LOC129934341, LOC129934342, LOC129934343, LOC129934344, LOC129934345, LOC129934346, LOC129934347, LOC129934348, LOC129934349, LOC129934350, LOC129934351, LOC129934352, LOC129934353, LOC129934354, LOC129934355, LOC129934356, LOC129934357, LOC129934358, LOC129934359, LOC129934360, LOC129934361, LOC129934362, LOC129934363, LOC129934364, MIR3127, NCAPH, NEURL3, SNRNP200 1 0 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 1
BBS10, OSBPL8 1 0 0 0 0 1
CACNG2-DT, IFT27 0 0 1 0 0 1
CCDC51 0 0 1 0 0 1
CCDC51, LOC126806676 0 0 1 0 0 1
CDH23, LOC111982869 0 1 0 0 0 1
CDH3, LOC128822932 1 0 0 0 0 1
CERKL, LOC129935215 0 0 1 0 0 1
CFAP410, LOC130066823 1 1 0 0 0 1
CHM, LOC129391306, LOC129391307, MIR361 1 0 0 0 0 1
CIB2, LOC130057683 0 0 1 0 0 1
CLN5 1 0 0 0 0 1
COL11A1, LOC126805814 0 0 1 0 0 1
DNAJC30 0 0 1 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 1
DNM1L 0 0 1 0 0 1
EXOSC2 0 0 1 0 0 1
FLVCR1, LOC129932486 0 0 1 0 0 1
FRMD7 1 0 0 0 0 1
GATAD1, PEX1 0 1 0 0 0 1
GNAT2, LOC129388577 0 1 0 0 0 1
GNB3 0 0 1 0 0 1
GNPTG, LOC130058158 0 0 1 0 0 1
GPHN, RDH11 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 0 1 0 0 0 1
HARS1, HARS2, LOC119407423 0 0 1 0 0 1
HK1, LOC130003980 0 0 0 1 0 1
IDH3A, LOC130057684 0 0 1 0 0 1
IFT27, LOC130067336 0 0 1 0 0 1
KCNV2, LOC124210607 1 0 0 0 0 1
LOC111365204, PRDM13 1 0 0 0 0 1
LOC111828517, RAB28 0 1 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 1
LOC121627850, SEMA6B 0 0 1 0 0 1
LOC121815974, OAT 0 0 1 0 0 1
LOC124421495, TEAD1 0 0 1 0 0 1
LOC126805613, NMNAT1 0 0 1 0 0 1
LOC126806913, OPA1 0 0 1 0 0 1
LOC129933155, NBAS 0 0 1 0 0 1
LOC129933376, ZNF513 0 0 1 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
LOC129993054, PLK4 0 0 1 0 0 1
LOC129998224, RP9 0 0 1 0 0 1
LOC130056226, SPATA7 0 0 0 0 1 1
LOC130057872, RLBP1 0 1 0 0 0 1
LOC130059818, SPG7 0 0 1 0 0 1
LOC130061461, RGS9 0 1 0 0 0 1
LOC130063377, PNPLA6 0 0 1 0 0 1
LOC130065345, PANK2 1 0 0 0 0 1
LOC130067629, MCAT 0 0 1 0 0 1
LZTFL1 0 0 1 0 0 1
MAPKAPK3 0 0 1 0 0 1
MCOLN1 0 0 1 0 0 1
MIR211, TRPM1 1 0 0 0 0 1
MMACHC 0 1 0 0 0 1
MT-ND4 1 0 0 0 0 1
MT-ND6 1 0 0 0 0 1
MTPAP 0 0 1 0 0 1
NR2F1 0 0 1 0 0 1
PANK2 1 0 0 0 0 1
PRPF8, RILP 0 1 0 0 0 1
PRPH2, UBR2 1 0 0 0 0 1
SLC25A46 0 0 1 0 0 1
SLC6A6 1 0 0 0 0 1
SSBP1 0 0 1 0 0 1
TEAD1 0 0 1 0 0 1
TEAD3, TULP1 0 1 0 0 0 1
TMEM237 0 0 1 0 0 1
ZFYVE26 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1493 812 2479 78 12 4874
Dept Of Ophthalmology, Nagoya University 207 311 1852 510 635 3515
Blueprint Genetics 789 852 1088 0 0 2729
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 9 87 78 0 0 174
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 67 61 4 0 0 132
NIHR Bioresource Rare Diseases, University of Cambridge 28 84 6 0 0 118
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 6 9 7 0 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 9 0 0 0 21
Dubai Health Genomic Medicine Center, Dubai Health 7 7 0 0 0 14
Ocular Genomics Institute, Massachusetts Eye and Ear 1 3 5 0 0 9
DBGen Ocular Genomics 3 3 1 0 0 7
Leeds Vision Research Group, University of Leeds 7 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 6 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 2 0 0 5
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 4 0 0 0 0 4
ClinGen Hearing Loss Variant Curation Expert Panel 1 1 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Hardcastle Lab, UCL Institute of Ophthalmology 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Rui Chen Lab, Baylor College of Medicine 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1

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