ClinVar Miner

List of variants reported as likely pathogenic for Retinal dystrophy by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter) rs201186440 0.00008
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 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_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) rs878853357 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter) rs878853342
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) rs878853376
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
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.808C>T (p.Gln270Ter) rs878853374
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.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) rs782469310
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) rs782215106
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.1697del (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.2309del (p.Pro770fs) rs878853400
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.933_935delinsTT (p.Pro313fs) rs878853355
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) rs878853387
NM_006915.3(RP2):c.507del (p.Asn169fs) rs878853381
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.400del (p.Asp134fs) rs878853331
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_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.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_033100.4(CDHR1):c.270dup (p.Thr91fs) rs878853347
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_152443.3(RDH12):c.648_658+20del rs878853341
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.1612_1613insCTTA (p.Leu538fs) rs878853364
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.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.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.4(USH2A):c.6470del (p.Arg2157fs) rs878853414

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