ClinVar Miner

Variants from NIHR Bioresource Rare Diseases,University of Cambridge

Location: United Kingdom — Primary collection method: research
Minimum submission review status: Collection method:
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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 total
111 410 45 7 0 572

Gene and significance breakdown #

Total genes and gene combinations: 108
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
USH2A 11 46 28 2 87
ABCA4 16 64 1 3 83
EYS 4 21 2 1 28
MYH9 12 10 6 0 28
CRB1 3 13 1 0 17
RP1 5 12 0 0 17
CACNA1F 2 11 0 0 13
MYO7A 3 10 0 0 13
RPGR 3 10 0 0 13
CNGB1 1 9 1 0 11
PDE6B 2 8 0 0 10
PROM1 6 4 0 0 10
ADGRV1 1 6 0 0 7
TRPM1 0 7 0 0 7
IQCB1 3 3 0 0 6
PRPF31 0 6 0 0 6
PRPH2 1 5 0 0 6
RHO 0 6 0 0 6
RPGRIP1 0 6 0 0 6
AHI1 0 5 0 0 5
CERKL 1 4 0 0 5
CLN3 0 5 0 0 5
CNGB3 2 3 0 0 5
GUCY2D 0 4 1 0 5
IMPG2 1 4 0 0 5
NMNAT1 0 5 0 0 5
RP2 1 4 0 0 5
C1QTNF5, MFRP 0 4 0 0 4
CDHR1 1 3 0 0 4
CNGA3 0 4 0 0 4
COL18A1 0 4 0 0 4
NR2E3 0 4 0 0 4
PDE6C 0 4 0 0 4
USH1C 1 3 0 0 4
BBS5 0 2 0 1 3
CEP290 1 1 1 0 3
CFAP410 0 3 0 0 3
CRX 0 3 0 0 3
GRM6 1 2 0 0 3
HGSNAT 0 3 0 0 3
KCNV2 1 2 0 0 3
LCA5 3 0 0 0 3
LOC102723833, USH2A 0 3 0 0 3
LRP5 1 2 0 0 3
MERTK 1 2 0 0 3
OCA2 0 3 0 0 3
PDE6A 1 2 0 0 3
TYR 0 3 0 0 3
VPS13B 0 0 3 0 3
WASF1 3 0 0 0 3
ABCC6 1 1 0 0 2
ABHD12 1 1 0 0 2
ATF6 0 2 0 0 2
BBS1, ZDHHC24 0 2 0 0 2
BBS10 1 1 0 0 2
BEST1 1 1 0 0 2
CABP4 0 2 0 0 2
CACNA2D4 0 2 0 0 2
CLRN1 1 1 0 0 2
CNGA1, LOC101927157 2 0 0 0 2
COL18A1, SLC19A1 0 2 0 0 2
FAM161A 0 2 0 0 2
GPHN, RDH12, ZFYVE26 1 1 0 0 2
GPR143 0 2 0 0 2
GUCA1A 0 2 0 0 2
KLHL7 0 2 0 0 2
LRP2 0 2 0 0 2
LURAP1L, TYRP1 1 1 0 0 2
NYX 0 2 0 0 2
PCARE 2 0 0 0 2
PHYH 0 2 0 0 2
RLBP1 0 2 0 0 2
RPE65 0 2 0 0 2
TOPORS 2 0 0 0 2
ABCA4, LOC112590828 0 1 0 0 1
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, C6orf99, CCDC170, CCR6, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, ERMARD, ESR1, EZR, FAM120B, FBXO5, FGFR1OP, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RGS17, RMND1, RNASET2, RPS6KA2, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNX9, SOD2, SYNE1, SYNJ2, SYTL3, TAGAP, TBP, TBXT, TCP1, TCP10L2, TCTE3, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 0 1
AIPL1 1 0 0 0 1
ALMS1 0 1 0 0 1
ARL2BP 0 1 0 0 1
ARL6 0 1 0 0 1
BBS1 0 1 0 0 1
BEND2, CDKL5, RAI2, SCML2 0 0 1 0 1
BPNT1, C1orf115, C1orf140, C1orf143, DUSP10, EPRS, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LOC102723833, LOC107325941, LOC110121042, LOC111429604, LYPLAL1, LYPLAL1-DT, MARC1, MARC2, MARK1, MIR194-1, MIR215, MIR664A, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 1
CDH3 1 0 0 0 1
CEP78 1 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, NEUROD1 0 1 0 0 1
CHM 0 1 0 0 1
CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 1
CTNNA1 0 1 0 0 1
CYP4V2 0 1 0 0 1
EYS, LOC113175011 0 1 0 0 1
GNAT2 0 1 0 0 1
GPR179 1 0 0 0 1
IFT140, LOC105371046 0 1 0 0 1
IMPG1 0 1 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 1
LOC112806037, MERTK 0 1 0 0 1
MALL, MTLN, NPHP1 0 1 0 0 1
MFSD8 0 1 0 0 1
PAX2 0 1 0 0 1
PCDH15 0 1 0 0 1
PRPF8 0 1 0 0 1
RBP3 0 1 0 0 1
RBP4 0 1 0 0 1
RGR 1 0 0 0 1
SNRNP200 0 1 0 0 1
TRPM6 0 1 0 0 1
TSPAN12 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Retinitis pigmentosa 38 162 22 2 224
Retinal dystrophy 28 84 6 0 118
Usher syndrome 8 37 8 1 54
Stargardt disease 1 7 35 0 2 44
MYH9-related disorder 12 10 6 0 28
Congenital stationary night blindness 5 22 0 0 27
Macular dystrophy 4 20 0 1 25
Abnormality of the eye 4 17 3 0 24
Leber congenital amaurosis 8 16 0 0 24
Cone/cone-rod dystrophy 1 12 0 1 14
Albinism 1 8 0 0 9
Achromatopsia 1 5 0 0 6
Familial exudative vitreoretinopathy 1 3 0 0 4
Intellectual disability 3 0 0 0 3
Coffin-Siris syndrome 1 1 0 0 0 1
Cone-rod dystrophy and hearing loss 1 0 0 0 1
Epileptic encephalopathy, early infantile, 54 0 1 0 0 1
Hypoxic Ischemic Encephalopathy 0 0 1 0 1

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