ClinVar Miner

List of variants reported as pathogenic by Ocular Genomics Institute, Massachusetts Eye and Ear

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ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) rs757725696 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001242957.3(MAK):c.497G>A (p.Arg166His) rs387906648 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020 0.00001
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) rs1064794573 0.00001
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) rs782245537 0.00001
NM_004928.3(CFAP410):c.355C>T (p.Gln119Ter) rs1457263136 0.00001
NM_004928.3(CFAP410):c.96+1G>A rs752137434 0.00001
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NC_000004.12:g.670405_677862del
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) rs757302286
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer) rs2101069758
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs) rs61751401
NM_000350.3(ABCA4):c.5461-1G>T rs2101008577
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter) rs1450419928
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000539.3(RHO):c.302G>T (p.Gly101Val) rs759945007
NM_000539.3(RHO):c.404G>T (p.Arg135Leu) rs104893774
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter) rs2150076887
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001166114.2(PNPLA6):c.3202_3205dup (p.Ile1069fs) rs2146108245
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) rs774264204
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) rs753353134
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.5017del (p.Tyr1673fs) rs753090404
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter) rs868566811
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2190-1G>T rs2104423659
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_016247.4(IMPG2):c.2233del (p.Glu745fs) rs1197126131
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr) rs1566847499
NM_152443.3(RDH12):c.697G>A (p.Val233Ile) rs140257538
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201548.5(CERKL):c.109C>T (p.Gln37Ter) rs1414280804
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233

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