ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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HGVS dbSNP
CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL, 1260TAAAG
CRX, 1-BP DEL, GLY217
CRX, 2-BP DEL, GLU168
GUCY2D, 1-BP DEL, 2943G
NC_000001.10:g.(?_10041069)_(10042779_?)del
NC_000001.10:g.(?_197237324)_(197237622_?)del
NC_000017.10:g.(?_7906220)_(7919868_?)del
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782
NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs) rs1555635668
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.3(GUCY2D):c.3224+1G>C rs757823463
NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) rs386834239
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3:c.1633C>T
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.914del (p.His305fs)
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
NM_000329.3(RPE65):c.227A>C (p.His76Pro)
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
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.568C>T (p.Arg190Trp) rs121912553
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) rs121912554
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) rs1401531865
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001346024.2(USP45):c.934-3481G>A
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) rs869320631
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) rs387906858
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) rs143607153
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) rs387906835
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) rs121909075
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.1495+1G>A rs281865168
NM_003322.6(TULP1):c.1495+2dup
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
NM_003322.6(TULP1):c.718+2T>C
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
NM_003322.6(TULP1):c.794del (p.Lys265fs)
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_004744.5(LRAT):c.217_218del (p.Met73fs) rs1560870755
NM_004744.5(LRAT):c.400_401del (p.Lys134fs) rs761717462
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) rs104893848
NM_004928.3(CFAP410):c.643-2A>G
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) rs1300041533
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014336.5(AIPL1):c.1008_1009AG[1] (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.1395del (p.Gln465fs) rs386834243
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
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_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1468-263G>C
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)
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.3238+1G>A
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.3(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.3(RPGRIP1):c.3617+1G>A rs771116776
NM_020366.3(RPGRIP1):c.3618-1_3621del
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.3(RPGRIP1):c.800+1G>A
NM_020366.3(RPGRIP1):c.801-25_843del rs1566674809
NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.3(RPGRIP1):c.895_896del (p.Glu299fs)
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) rs387907293
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) rs368062092
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) rs387907291
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) rs387907290
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1623+5G>A rs1555222073
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1711+1G>A rs587783009
NM_025114.3(CEP290):c.1910-11T>G rs1555220638
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2248_2249delTT (p.Leu750Thrfs) rs587783010
NM_025114.3(CEP290):c.2249T>G (p.Leu750Ter) rs137852833
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5587-1G>C
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.451C>A (p.His151Asn) rs104894475
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) rs104894472
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.784dup (p.Ala262fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_181714.4(LCA5):c.0_-298+211del
NM_183059.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_183059.2(RD3):c.136G>T (p.Glu46Ter) rs786205150
NM_183059.2(RD3):c.137_138del (p.Glu46fs) rs786205149
NM_183059.2(RD3):c.180C>A (p.Tyr60Ter) rs762631020
NM_183059.2(RD3):c.296+1G>A rs386834260
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter) rs137853136
NM_201253.3(CRB1):c.4005+1G>A
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941
NM_201253.3(CRB1):c.410del (p.Pro137fs) rs1558057153
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
NM_201253.3(CRB1):c.437_440AGAT[1] (p.Asp148fs)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.70+1G>A rs1237424465
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015
RDH12, 1-BP DEL, 776G
RPGRIP1, 1-BP DEL, ASP1176
RPGRIP1, 1-BP DEL, LYS342
RPGRIP1, 1-BP INS, GLN893
RPGRIP1, 3-BP DEL, 3835GAG
SPATA7, 3-BP DEL, 1227CAC
SPATA7, 4-BP DEL, 265CTCA
TULP1, 6-BP DUP, NT1593
TULP1, IVS14DS, G-A, +1
TULP1, IVS2DS, G-A, +1

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