ClinVar Miner

List of variants studied for Leber congenital amaurosis

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ClinVar version:
Total variants: 273
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HGVS dbSNP
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs)
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs) rs1555635925
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NM_000329.3(RPE65):c.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000554.5(CRX):c.-116T>C rs10418215
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308_*310AAG[2] rs398059782
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.443del (p.Gly148fs)
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.[101-1G>A];[122G>A]
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
NM_001077182.3(FSCN2):c.72del (p.Thr25fs) rs376633374
NM_001080442.2(SLC38A8):c.388+5G>A rs760391436
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.*35del rs747368961
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001164688.1(RD3):c.-166_-165GA[1] rs886045903
NM_001164688.1(RD3):c.-336_-335AC[16] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[19] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[20] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[21] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[23] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[24] rs34485370
NM_001168407.2(RIMS1):c.1536-963del rs587783021
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025
NM_002242.4(KCNJ13):c.*1482_*1484del rs774385692
NM_002242.4(KCNJ13):c.*1742dup rs746052279
NM_002242.4(KCNJ13):c.*179_*180CT[1] rs758195599
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020
NM_003322.6(TULP1):c.*273del rs112061946
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) rs1581736099
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) rs1581743256
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) rs1581742633
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) rs1581740762
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_004744.5(LRAT):c.*1338T>G rs12507608
NM_004744.5(LRAT):c.*1585T>G rs886059168
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2453C>A rs886059171
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*2529C>T rs185391295
NM_004744.5(LRAT):c.*2625A>G rs77071498
NM_004744.5(LRAT):c.*2670G>T rs17032000
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3264G>A rs115053323
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3618G>A rs17032002
NM_004744.5(LRAT):c.*3712G>C rs144961748
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.*3819T>C rs191600425
NM_004744.5(LRAT):c.*3T>G rs200942685
NM_004744.5(LRAT):c.*549T>C rs886059165
NM_004744.5(LRAT):c.*640T>C rs574458445
NM_004744.5(LRAT):c.*98C>T rs529360609
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.-2+7A>C rs886059161
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532
NM_004928.3(CFAP410):c.643-2A>G rs1602071524
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_007123.5(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.4(AIPL1):c.-21A>G rs373772674
NM_014336.4(AIPL1):c.-52G>T rs377376064
NM_014336.4(AIPL1):c.-73A>G rs751249166
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*153del rs886053264
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887_*891CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del) rs1200311161
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
NM_018418.5(SPATA7):c.[388C>T];[657del]
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.3(RPGRIP1):c.3748+17dup rs578107768
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]
NM_024649.5(BBS1):c.[1285C>T];[908del]
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.102+1G>T
NM_025114.4(CEP290):c.1623+5G>A rs1555222073
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425
NM_025114.4(CEP290):c.[1429C>T];[322C>T]
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) rs1012947103
NM_183059.2(RD3):c.*1305del rs886045896
NM_183059.2(RD3):c.*1307_*1308insCT rs142577368
NM_183059.2(RD3):c.*1582del rs879756831
NM_183059.2(RD3):c.*1582dup rs879756831
NM_183059.2(RD3):c.*1583del rs775682217
NM_183059.2(RD3):c.-204_-203insC rs11463656
NM_183059.2(RD3):c.-295_-294del rs1553282313
NM_183059.2(RD3):c.-296_-295dup rs1491560139
NM_183059.2(RD3):c.-305_-297delinsC rs886045910
NM_183059.2(RD3):c.-307_-297delinsC rs886045911
NM_183059.2(RD3):c.-340_-339del rs886045915
NM_183059.2(RD3):c.-343_-340del rs886045916
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) rs1567453873
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) rs143681049
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1172-15T>A rs375141011
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) rs1571544281
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.[1208C>G];[1576C>T]
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640
NM_206933.4(USH2A):c.4758+3A>G rs117798425
NR_148338.1(LOC107986845):n.884G>A rs183121204
Single allele

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