ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 278
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HGVS dbSNP
NC_000001.11:g.211492269A>C
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp) rs755223158
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=) rs542570988
NM_000180.4(GUCY2D):c.1278C>T (p.Ser426=) rs746671374
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=) rs758841128
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=) rs376508683
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=) rs201196538
NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=) rs776298636
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=) rs377648185
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=) rs140628227
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=) rs147201985
NM_000180.4(GUCY2D):c.2892C>G (p.Arg964=) rs151052136
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=) rs540877830
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203
NM_000180.4(GUCY2D):c.525G>A (p.Leu175=) rs570251619
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=) rs750484873
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466
NM_000180.4(GUCY2D):c.81C>T (p.Pro27=) rs1361790718
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213
NM_000329.3(RPE65):c.*341T>C
NM_000329.3(RPE65):c.*680G>A
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166
NM_000329.3(RPE65):c.1098G>A (p.Arg366=) rs764589805
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+8A>G rs777211540
NM_000329.3(RPE65):c.1395A>G (p.Ser465=) rs764923358
NM_000329.3(RPE65):c.1435T>C (p.Leu479=) rs373882259
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) rs766848627
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489
NM_000329.3(RPE65):c.237C>T (p.Tyr79=) rs371095928
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.496-4G>A rs138146176
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046
NM_000329.3(RPE65):c.621A>G (p.Val207=) rs746032112
NM_000329.3(RPE65):c.624G>A (p.Lys208=) rs1170839612
NM_000329.3(RPE65):c.644-42del rs61752893
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021
NM_000329.3(RPE65):c.777T>C (p.Ile259=) rs762186209
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512
NM_000329.3(RPE65):c.95-10T>A rs547374432
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907
NM_000554.6(CRX):c.*1063C>T rs143939023
NM_000554.6(CRX):c.*1148G>C rs139073763
NM_000554.6(CRX):c.*1220G>A rs58323327
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1671G>A rs550538685
NM_000554.6(CRX):c.*1961G>A rs117186518
NM_000554.6(CRX):c.*19C>T rs79186398
NM_000554.6(CRX):c.*2017C>T rs73038753
NM_000554.6(CRX):c.*2299C>T rs73038757
NM_000554.6(CRX):c.*2375G>A rs188212480
NM_000554.6(CRX):c.*2396C>T rs374128749
NM_000554.6(CRX):c.*2602C>T rs562310108
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*3117A>G
NM_000554.6(CRX):c.*527C>T rs371749408
NM_000554.6(CRX):c.*860C>T rs185098538
NM_000554.6(CRX):c.*972C>G rs12462416
NM_000554.6(CRX):c.-39G>C rs531267959
NM_000554.6(CRX):c.100+8C>T rs375411321
NM_000554.6(CRX):c.129C>T (p.Arg43=) rs775065439
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.253-15G>A rs145805694
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459
NM_000883.4(IMPDH1):c.*228G>A rs72624976
NM_000883.4(IMPDH1):c.*276C>T
NM_000883.4(IMPDH1):c.*544G>A
NM_000883.4(IMPDH1):c.1074+6G>T rs61751224
NM_000883.4(IMPDH1):c.1074+7C>T rs72624958
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) rs369859861
NM_001001557.4(GDF6):c.483G>T (p.Leu161=) rs200585226
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del) rs141468446
NM_001122769.3(LCA5):c.*1300G>A rs16890805
NM_001122769.3(LCA5):c.*1495G>A
NM_001122769.3(LCA5):c.*1528G>A rs41269343
NM_001122769.3(LCA5):c.1099-12A>G rs192066914
NM_001122769.3(LCA5):c.859-12G>C rs115317386
NM_002242.4(KCNJ13):c.*2225G>A
NM_002242.4(KCNJ13):c.*761C>T rs41265971
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_003322.6(TULP1):c.*273del rs112061946
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076
NM_004744.5(LRAT):c.*1338T>G rs12507608
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2670G>T rs17032000
NM_004744.5(LRAT):c.*3382G>A
NM_004744.5(LRAT):c.*3618G>A rs17032002
NM_004744.5(LRAT):c.*98C>T rs529360609
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.*1658T>C rs78526307
NM_014336.5(AIPL1):c.*33A>C rs140472462
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.277-14G>A rs117749485
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.5(AIPL1):c.33G>C (p.Gly11=) rs369223841
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.393G>C (p.Thr131=) rs1179777392
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) rs142319505
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala) rs16955859
NM_018418.5(SPATA7):c.1238A>G (p.His413Arg) rs149478294
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=) rs766017194
NM_018418.5(SPATA7):c.19+7G>A rs199560035
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe) rs150093878
NM_018418.5(SPATA7):c.534C>G (p.Ser178=) rs755523674
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.653C>T (p.Ser218Leu) rs74072095
NM_018418.5(SPATA7):c.757C>T (p.Leu253=) rs138993523
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr) rs138190453
NM_020366.3(RPGRIP1):c.*10T>C rs80191010
NM_020366.3(RPGRIP1):c.1078-9C>A rs371312060
NM_020366.3(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308
NM_020366.3(RPGRIP1):c.1295C>T (p.Ser432Phe) rs190985984
NM_020366.3(RPGRIP1):c.1608T>C (p.Tyr536=) rs371513311
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.1899C>T (p.His633=) rs759142742
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.2490C>T (p.Thr830=) rs748441119
NM_020366.3(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506
NM_020366.3(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989
NM_020366.3(RPGRIP1):c.3171C>T (p.His1057=) rs201838837
NM_020366.3(RPGRIP1):c.3340-15C>T rs28664100
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3533-4A>G rs925349418
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.528G>A (p.Ser176=) rs375351235
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.543G>A (p.Ala181=) rs774735061
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641
NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462
NM_022787.4(NMNAT1):c.115+3A>G rs181504239
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) rs202057799
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_152443.3(RDH12):c.138C>T (p.Gly46=) rs140371232
NM_152443.3(RDH12):c.300C>T (p.Ser100=) rs746513362
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp) rs775717423
NM_152443.3(RDH12):c.344-7C>T rs369409245
NM_152443.3(RDH12):c.375T>C (p.Asn125=) rs1594865727
NM_152443.3(RDH12):c.39G>A (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.474C>T (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.498C>A (p.Ala166=) rs1244771115
NM_152443.3(RDH12):c.579C>T (p.Arg193=) rs142117351
NM_152443.3(RDH12):c.600T>C (p.Tyr200=) rs535474444
NM_152443.3(RDH12):c.60A>G (p.Pro20=) rs1594864246
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) rs769317754
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390
NM_183059.2(RD3):c.*1281G>A rs73072853
NM_183059.2(RD3):c.*1307_*1308insCT rs142577368
NM_183059.2(RD3):c.*2503G>T rs41309617
NM_183059.2(RD3):c.-297A>C rs202137622
NM_183059.2(RD3):c.102G>A (p.Thr34=) rs199511076
NM_183059.2(RD3):c.494A>C (p.Asp165Ala) rs149051185
NM_183059.2(RD3):c.584A>T (p.Asp195Val) rs143207434
NM_183059.2(RD3):c.83C>T (p.Thr28Met) rs61740157
NM_183059.3(RD3):c.*1039T>A
NM_183059.3(RD3):c.*834G>A
NM_183059.3(RD3):c.*834G>T
NM_201253.3(CRB1):c.*28T>C rs41302107
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950
NM_201253.3(CRB1):c.1089T>C (p.Tyr363=) rs376105354
NM_201253.3(CRB1):c.1182C>T (p.Cys394=) rs115352681
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699
NM_201253.3(CRB1):c.1332C>T (p.Gly444=) rs148865280
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1431G>A (p.Gly477=) rs761872993
NM_201253.3(CRB1):c.1452C>T (p.Thr484=) rs372844443
NM_201253.3(CRB1):c.156T>C (p.Asn52=) rs143046320
NM_201253.3(CRB1):c.162T>C (p.Cys54=) rs1426861310
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710
NM_201253.3(CRB1):c.2019G>A (p.Lys673=) rs762613347
NM_201253.3(CRB1):c.2040T>C (p.Pro680=) rs756400739
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.3(CRB1):c.2128+15A>C rs75691013
NM_201253.3(CRB1):c.2129-8C>T rs768488282
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.3(CRB1):c.2235G>A (p.Thr745=) rs753107217
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) rs371089348
NM_201253.3(CRB1):c.2544C>T (p.Phe848=) rs760840456
NM_201253.3(CRB1):c.2580A>G (p.Gln860=) rs562386611
NM_201253.3(CRB1):c.2677-8C>T rs73071678
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) rs114630940
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757
NM_201253.3(CRB1):c.2874C>T (p.Ser958=) rs372778560
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
NM_201253.3(CRB1):c.2901G>T (p.Gly967=) rs773815247
NM_201253.3(CRB1):c.2925T>C (p.Asn975=) rs1413108078
NM_201253.3(CRB1):c.2976A>G (p.Ala992=) rs200379694
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=) rs374426440
NM_201253.3(CRB1):c.3120C>T (p.Ser1040=) rs1571556490
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284
NM_201253.3(CRB1):c.3195A>G (p.Thr1065=) rs1571556837
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) rs374786358
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) rs116246250
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) rs142090517
NM_201253.3(CRB1):c.393T>C (p.Tyr131=) rs1324766724
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.483C>G (p.Ala161=) rs370907719
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.3(CRB1):c.591C>T (p.Asn197=) rs770973303
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.3(CRB1):c.627T>C (p.Thr209=) rs755611610
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212
NM_201253.3(CRB1):c.747C>T (p.Asp249=) rs1449307743
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263
NR_148338.1(LOC107986845):n.884G>A rs183121204

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