ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00010
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00003
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) rs1409490389 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter) rs1318750068 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00002
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp) rs940175403 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841 0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr) rs1331645027 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_014336.5(AIPL1):c.276+1G>A rs150097891 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg) rs535695411 0.00001
NM_020366.4(RPGRIP1):c.931-2A>G rs374188857 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2992-1G>T rs2037480294 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter) rs758878983 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.516+1G>A rs779409629 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339 0.00001
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg) rs954595597 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) rs757137398 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter) rs1342970033 0.00001
NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser) rs968499207 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
NM_000180.4(GUCY2D):c.1378+1G>T
NM_000180.4(GUCY2D):c.1956+1G>A
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu) rs1158240863
NM_000329.3(RPE65):c.1244-1G>A
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter) rs1289316104
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1416del (p.Phe472fs)
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.41_42del (p.Lys14fs)
NM_000329.3(RPE65):c.540C>A (p.His180Gln) rs2100821857
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_001122769.3(LCA5):c.1000C>T (p.Gln334Ter)
NM_001122769.3(LCA5):c.1273del (p.Ala425fs) rs1414684440
NM_001122769.3(LCA5):c.1525_1526del (p.Tyr509fs)
NM_001122769.3(LCA5):c.1A>T (p.Met1Leu)
NM_001122769.3(LCA5):c.37del (p.Glu13fs) rs2127683029
NM_001122769.3(LCA5):c.644del (p.Leu215fs)
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.964C>T (p.Gln322Ter)
NM_001164688.2(RD3):c.265del (p.His89fs)
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1255del (p.Arg419fs) rs1387418594
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1445G>T (p.Arg482Leu)
NM_003322.6(TULP1):c.715_718del (p.Lys239fs)
NM_003322.6(TULP1):c.806_807dup (p.Gly270fs)
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_003322.6(TULP1):c.822+1G>A
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003322.6(TULP1):c.963T>G (p.Tyr321Ter)
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1583_1596del (p.Leu528fs)
NM_020366.4(RPGRIP1):c.1612-2A>G
NM_020366.4(RPGRIP1):c.2386del (p.Glu796fs)
NM_020366.4(RPGRIP1):c.2795dup (p.Pro932_Glu933insTer)
NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)
NM_020366.4(RPGRIP1):c.410dup (p.Arg138fs)
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1042del (p.Ser348fs)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1274_1275del (p.Arg425fs)
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C rs2501054131
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1521_1522+2dup
NM_025114.4(CEP290):c.1624-1G>C
NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.175dup (p.Met59fs)
NM_025114.4(CEP290):c.1775del (p.Arg592fs)
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter) rs2500867184
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1G>A rs2038915208
NM_025114.4(CEP290):c.2139_2148del (p.Glu713fs)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter) rs1438792443
NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer) rs2500742395
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2854del (p.Val952fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3085del (p.Glu1029fs)
NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3290dup (p.Leu1097fs)
NM_025114.4(CEP290):c.3377_3378dup (p.Ser1127Ter)
NM_025114.4(CEP290):c.341del (p.Arg114fs)
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter) rs2500121621
NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter) rs2500112760
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs) rs2500101115
NM_025114.4(CEP290):c.4092del (p.Glu1364fs)
NM_025114.4(CEP290):c.4195-2del
NM_025114.4(CEP290):c.441+1G>A rs1184012636
NM_025114.4(CEP290):c.442-1G>A rs2040047006
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4695del (p.Ala1566fs)
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs) rs2499974587
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.4855dup (p.His1619fs) rs2499960522
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter) rs2499957266
NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.5073del (p.Lys1691fs)
NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5364+1G>A
NM_025114.4(CEP290):c.5441_5444del (p.Asn1813_Ser1814insTer)
NM_025114.4(CEP290):c.5482_5483del (p.Lys1828fs)
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5709+2T>G rs2499838601
NM_025114.4(CEP290):c.5710-2A>G
NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter) rs2499744201
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)
NM_025114.4(CEP290):c.5909_5910dup (p.Val1971fs)
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6270+1G>A
NM_025114.4(CEP290):c.6271-1G>A rs2034579709
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6358-2A>C
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs) rs2499571369
NM_025114.4(CEP290):c.6400_6403dup (p.Gly2135fs)
NM_025114.4(CEP290):c.6417del (p.Lys2139_Val2140insTer)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6960+1G>A
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
NM_025114.4(CEP290):c.725del (p.Asn242fs)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs) rs1219184437
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.829_833del (p.Glu277fs)
NM_025114.4(CEP290):c.852del (p.Val285fs)
NM_025114.4(CEP290):c.992del (p.Leu331fs)
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) rs2140141345
NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr) rs1566847499
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.661_666delinsCCTCTTT (p.Thr221fs)
NM_152443.3(RDH12):c.680_684delinsT (p.Ala227fs)
NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)
NM_152443.3(RDH12):c.697G>A (p.Val233Ile) rs140257538
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1172-1G>A
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly) rs2528105698
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr) rs757279881
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1881_1885dup (p.Asn629fs)
NM_201253.3(CRB1):c.2129-1G>A rs1664642051
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2677-2A>G
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3055_3057delinsGCAATTGACA (p.Tyr1019fs)
NM_201253.3(CRB1):c.3296del (p.Thr1099fs)
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3375del (p.Leu1126fs)
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3621del (p.Gly1208fs)
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3926del (p.Gly1309fs)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.652+1G>A rs2125304900

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