ClinVar Miner

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

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ClinVar version:
Total variants: 143
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HGVS dbSNP
NM_000087.4(CNGA1):c.1540C>T (p.Arg514Ter) rs199584830
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_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000283.3(PDE6B):c.1876G>T (p.Glu626Ter) rs758052437
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000317.2(PTS):c.(?_-1)_(*1_?)del
NM_000328.3(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.116T>G (p.Met39Arg)
NM_000539.3(RHO):c.165C>A (p.Asn55Lys)
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)
NM_000539.3(RHO):c.284T>C (p.Leu95Pro)
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773
NM_000539.3(RHO):c.362G>T (p.Gly121Val)
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.50C>A (p.Thr17Lys)
NM_000539.3(RHO):c.527C>T (p.Ser176Phe)
NM_000539.3(RHO):c.532T>C (p.Tyr178His)
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.539C>T (p.Pro180Leu)
NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu)
NM_000539.3(RHO):c.553T>C (p.Cys185Arg)
NM_000539.3(RHO):c.559T>C (p.Cys187Arg)
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.560G>T (p.Cys187Phe)
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.647T>A (p.Met216Lys)
NM_000539.3(RHO):c.673C>T (p.Gln225Ter)
NM_000539.3(RHO):c.730C>T (p.Gln244Ter)
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.886A>C (p.Lys296Gln)
NM_000539.3(RHO):c.929del (p.Asn310fs)
NM_000539.3(RHO):c.936+1G>T
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro)
NM_000539.3(RHO):c.977del (p.Asn326fs)
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001123385.1(BCOR):c.(3502+1_3503-1)_(4173+1_4174-1)del
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142763.1:c.-189197_c.610-5166del
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro) rs869312176
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_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) rs782469310
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) rs782215106
NM_003846.2(PEX11B):c.(?_-1)_(374+1_375-1)del
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_007123.5(USH2A):c.1558del (p.Cys520fs) rs878853410
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.3634G>T (p.Glu1212Ter) rs878853357
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_020366.3(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_020366.3(RPGRIP1):c.1445T>A (p.Leu482Ter) rs878853391
NM_020366.3(RPGRIP1):c.2007del (p.Val670fs) rs878853390
NM_020366.3(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201
NM_020366.3(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675
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_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
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_201548.5(CERKL):c.193G>T (p.Glu65Ter) rs201186440
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.3(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.3(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.3(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6470del (p.Arg2157fs) rs878853414

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