ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis by Invitae

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969 0.39047
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448 0.30943
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_020366.4(RPGRIP1):c.2215+7G>A rs7157052 0.19970
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_201253.3(CRB1):c.1410= (p.Leu470=) rs3902057 0.07472
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_018418.5(SPATA7):c.20-19T>G rs75595762 0.06915
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_014336.5(AIPL1):c.784+18G>A rs7222126 0.05323
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.04245
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03845
NM_018418.5(SPATA7):c.94+20C>T rs17124616 0.03841
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665 0.03818
NM_018418.5(SPATA7):c.191-14C>A rs60770744 0.03598
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_001164688.2(RD3):c.500G>A (p.Arg167Lys) rs74782684 0.01632
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=) rs112976233 0.01543
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_001164688.2(RD3):c.84G>A (p.Thr28=) rs61740158 0.00932
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_001164688.2(RD3):c.296+18G>A rs112790429 0.00876
NM_001164688.2(RD3):c.16T>C (p.Trp6Arg) rs35649846 0.00871
NM_001164688.2(RD3):c.235T>C (p.Leu79=) rs35937732 0.00870
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) rs34049451 0.00854
NM_001164688.2(RD3):c.69G>C (p.Glu23Asp) rs34422496 0.00786
NM_000329.3(RPE65):c.95-18G>A rs75886344 0.00747
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908 0.00689
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255 0.00650
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_000180.4(GUCY2D):c.1566+17G>A rs140657975 0.00357
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) rs150656720 0.00357
NM_022787.4(NMNAT1):c.440-16G>T rs181513024 0.00353
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014336.5(AIPL1):c.228T>C (p.Leu76=) rs141947237 0.00199
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_014336.5(AIPL1):c.318G>A (p.Gln106=) rs142208422 0.00185
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404 0.00176
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_018418.5(SPATA7):c.190+16T>C rs201762735 0.00135
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_014336.5(AIPL1):c.853G>A (p.Ala285Thr) rs145430356 0.00119
NM_014336.5(AIPL1):c.854C>A (p.Ala285Glu) rs148543951 0.00119
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252 0.00111
NM_201253.3(CRB1):c.2843-13C>T rs199808176 0.00109
NM_014336.5(AIPL1):c.756C>T (p.His252=) rs202182152 0.00107
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala) rs61740429 0.00103
NM_000554.6(CRX):c.102C>T (p.Ser34=) rs139778328 0.00102
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774 0.00102
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_152443.3(RDH12):c.264G>A (p.Lys88=) rs149522949 0.00092
NM_152443.3(RDH12):c.659-12T>C rs77686476 0.00091
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.490+11A>C rs200740893 0.00076
NM_000329.3(RPE65):c.1244-5C>T rs202185816 0.00074
NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=) rs372813238 0.00073
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_001164688.2(RD3):c.519G>A (p.Val173=) rs139419737 0.00062
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_018418.5(SPATA7):c.381C>T (p.Gly127=) rs371280215 0.00058
NM_152443.3(RDH12):c.848+14A>C rs535122314 0.00058
NM_001164688.2(RD3):c.168C>T (p.Thr56=) rs146420268 0.00057
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=) rs369515171 0.00048
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000180.4(GUCY2D):c.2413-14C>T rs189559705 0.00046
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417 0.00034
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=) rs568227769 0.00031
NM_000180.4(GUCY2D):c.2577-15G>A rs199708312 0.00024
NM_001001557.4(GDF6):c.921G>C (p.Ala307=) rs545149100 0.00024
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416 0.00024
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617 0.00021
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517 0.00021
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_018418.5(SPATA7):c.345C>T (p.Ser115=) rs754923626 0.00019
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575 0.00016
NM_001001557.4(GDF6):c.407-20A>C rs536565151 0.00016
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) rs139040133 0.00015
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613 0.00011
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020366.4(RPGRIP1):c.86-20A>T rs372867069 0.00008
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=) rs766570845 0.00007
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_000329.3(RPE65):c.1086A>G (p.Gln362=) rs750890448 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) rs368498747 0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) rs768532556 0.00006
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000554.6(CRX):c.276T>G (p.Ala92=) rs536401910 0.00005
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_201253.3(CRB1):c.447C>T (p.His149=) rs576678571 0.00005
NM_000554.6(CRX):c.591G>A (p.Pro197=) rs769009205 0.00004
NM_000554.6(CRX):c.645C>T (p.Phe215=) rs191794330 0.00004
NM_018418.5(SPATA7):c.913-14T>A rs185459765 0.00004
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=) rs201639860 0.00004
NM_018418.5(SPATA7):c.373-15A>G rs781587897 0.00003
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.3749-6C>A rs373373799 0.00003
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) rs888138096 0.00002
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) rs988646683 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) rs1401531865 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) rs770919155 0.00001
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312 0.00001
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)
NM_000180.4(GUCY2D):c.1956+15del
NM_000180.4(GUCY2D):c.2114-9del rs2151802761
NM_000180.4(GUCY2D):c.2769+16del
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+15del
NM_000180.4(GUCY2D):c.3225-10del rs750454050
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.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.859-5dup
NM_000554.6(CRX):c.101-3del rs727503894
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) rs121909354
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
NM_001001557.4(GDF6):c.407-10dup
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) rs1444302456
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) rs121909356
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) rs1812445302
NM_001164688.2(RD3):c.296+18del rs753221814
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys) rs2150674893
NM_014336.5(AIPL1):c.96+14del
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_018418.5(SPATA7):c.1215+7C>A rs201943545
NM_018418.5(SPATA7):c.20-12del
NM_018418.5(SPATA7):c.239-10dup
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_020366.4(RPGRIP1):c.490+23dup
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213
NM_201253.3(CRB1):c.1172-13dup
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.653-6del
NM_201253.3(CRB1):c.71-13dup rs772914182
NM_201253.3(CRB1):c.848+9del rs1357084962
NM_201253.3(CRB1):c.848+9dup rs1357084962
NM_201253.3(CRB1):c.988+13dup

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