ClinVar Miner

List of variants studied for Retinal dystrophy by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00043
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) rs142092713 0.00009
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter) rs201186440 0.00008
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val) rs368141295 0.00006
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001379270.1(CNGA1):c.1535T>G (p.Met512Arg) rs761947277 0.00003
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) rs878853353 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_006017.3(PROM1):c.694+4A>T rs375952708 0.00002
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) rs138686895 0.00002
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001379270.1(CNGA1):c.629A>T (p.Asp210Val) rs775886085 0.00001
NM_002335.4(LRP5):c.121C>T (p.Arg41Trp) rs745454417 0.00001
NM_006017.3(PROM1):c.1141+1G>A rs878853401 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=) rs761899545 0.00001
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) rs878853357 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter) rs878853342
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) rs878853376
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
NM_000554.6(CRX):c.100+1G>C rs878853384
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
NM_001034853.2(RPGR):c.1572+1del rs878853373
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter) rs869312185
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) rs878853393
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) rs559591083
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del
NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser) rs878853359
NM_001354768.3(NRL):c.586_627dup (p.Ala196_Ala209dup) rs878853356
NM_002335.4(LRP5):c.1034T>A (p.Leu345Gln) rs878853336
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) rs782469310
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) rs782215106
NM_002905.5(RDH5):c.536A>G (p.Lys179Arg) rs781112960
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) rs878853351
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter) rs869312183
NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del
NM_006017.3(PROM1):c.1141+5G>C rs878853402
NM_006017.3(PROM1):c.1697del (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006017.3(PROM1):c.2309del (p.Pro770fs) rs878853400
NM_006017.3(PROM1):c.694+1G>A rs878853399
NM_006204.4(PDE6C):c.1892A>G (p.Glu631Gly) rs878853345
NM_006204.4(PDE6C):c.1894A>T (p.Arg632Trp) rs878853346
NM_006269.2(RP1):c.1462del (p.Glu488fs) rs878853327
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs) rs878853329
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.742C>T (p.Gln248Ter) rs769156393
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
NM_006343.3(MERTK):c.1866G>C (p.Lys622Asn) rs775460185
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs) rs878853355
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) rs878853387
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) rs878853388
NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del) rs878853380
NM_006915.3(RP2):c.507del (p.Asn169fs) rs878853381
NM_012193.4(FZD4):c.961G>A (p.Val321Ile) rs878853344
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe) rs878853395
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) rs878853332
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) rs878853330
NM_015629.4(PRPF31):c.400del (p.Asp134fs) rs878853331
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) rs878853333
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) rs878853335
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) rs878853334
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) rs878853358
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup
NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) rs878853385
NM_018418.5(SPATA7):c.1241_1252del (p.Val414_Val417del) rs878853386
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter) rs878853391
NM_020366.4(RPGRIP1):c.2007del (p.Val670fs) rs878853390
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs) rs878853348
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033100.4(CDHR1):c.270dup (p.Thr91fs) rs878853347
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_152443.3(RDH12):c.383T>G (p.Val128Gly) rs878853340
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) rs878853379
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) rs878853365
NM_201253.3(CRB1):c.2843-1G>A rs878853368
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter) rs878853369
NM_201253.3(CRB1):c.807dup (p.Pro270fs) rs878853366
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.4251+1G>A rs878853405
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6326-1G>A rs878853411
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6470del (p.Arg2157fs) rs878853414

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.