ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Genetics in Ophthalmology, Institut Imagine

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ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp) rs931906767 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) rs748972748 0.00001
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys) rs751036771 0.00001
NM_004744.5(LRAT):c.149T>G (p.Val50Gly) rs1384466058 0.00001
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) rs1396648864 0.00001
NM_007348.4(ATF6):c.950G>A (p.Arg317Gln) rs771933147 0.00001
NM_022787.4(NMNAT1):c.-72G>A rs1475372376 0.00001
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro) rs1570715470 0.00001
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) rs757724544 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys) rs1163040913 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro) rs1975743813
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val) rs1975868246
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro) rs1975868797
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu) rs750153057
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg) rs1975909279
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg) rs1975911358
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser) rs762981013
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly) rs573270795
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala) rs1975943992
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr) rs1975945845
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser) rs1975945845
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr) rs1306952187
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu) rs764954235
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro) rs1429807175
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly) rs1975971228
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000310.4(PPT1):c.733G>A (p.Gly245Arg) rs1259755308
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu) rs1645945582
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg) rs1645945643
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.407T>G (p.Val136Gly) rs1645928251
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.770T>G (p.Val257Gly) rs1645883131
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) rs1645880293
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu) rs1645880232
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_001017979.3(RAB28):c.328GTG[1] (p.Val111del)
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs) rs1769703329
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly) rs1766318937
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg) rs2065788651
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp) rs2065717075
NM_001256789.3(CACNA1F):c.818-820del rs2065854138
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala) rs1692916541
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met) rs375928335
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile) rs1699223440
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys) rs387906835
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) rs146311742
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu) rs1768748235
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) rs1732848653
NM_004744.5(LRAT):c.487C>T (p.His163Tyr) rs1010347467
NM_007348.4(ATF6):c.854A>G (p.Lys285Arg) rs1685168329
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_018116.4(MSTO1):c.65C>A (p.Ala22Glu)
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg) rs1885763952
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg) rs780733881
NM_022787.4(NMNAT1):c.-57+10C>T rs1640875786
NM_022787.4(NMNAT1):c.-57+4A>G rs957312118
NM_022787.4(NMNAT1):c.-57G>T rs1640875002
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg) rs1641789657
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met) rs1641791811
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe) rs1641792104
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro) rs1641966303
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile) rs1405020783
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly) rs1641967500
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser) rs771954272
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn) rs1641971124
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe) rs1641973290
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro) rs1032626668
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro) rs767385752
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro) rs769546135
NM_181714.4(LCA5):c.1569_1582del (p.His523fs)
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr) rs1664322968
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe) rs1664649015
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg) rs28939720
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala) rs757137398
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg) rs1664680011
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp) rs1664683759
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu) rs1665071224
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val) rs1665084413
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr) rs1665280076
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC rs1665488161
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr) rs1665489039
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn) rs1667260204
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp) rs1667260968
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg) rs1667264651
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr) rs1659844562

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