ClinVar Miner

List of variants studied for Leber congenital amaurosis 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_001122769.3(LCA5):c.-62A>G rs2803195 0.84542
NM_001122769.3(LCA5):c.*223A>G rs2292109 0.45638
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461 0.14840
NM_001122769.3(LCA5):c.*1528G>A rs41269343 0.11829
NM_001122769.3(LCA5):c.*1044A>C rs1057174 0.02673
NM_001122769.3(LCA5):c.*1300G>A rs16890805 0.02447
NM_001122769.3(LCA5):c.*1495G>A rs76104104 0.02321
NM_001122769.3(LCA5):c.-334C>T rs116580217 0.01110
NM_001122769.3(LCA5):c.*1292A>G rs77354230 0.01061
NM_001122769.3(LCA5):c.*1752G>A rs1394281 0.00871
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854 0.00773
NM_001122769.3(LCA5):c.*874A>G rs149782333 0.00360
NM_001122769.3(LCA5):c.*640T>C rs45499200 0.00331
NM_001122769.3(LCA5):c.*1777T>A rs58717513 0.00257
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_001122769.3(LCA5):c.902G>A (p.Arg301His) rs139142572 0.00109
NM_001122769.3(LCA5):c.*1577T>G rs184100878 0.00108
NM_001122769.3(LCA5):c.*1573A>G rs140103894 0.00107
NM_001122769.3(LCA5):c.*719A>G rs2292108 0.00103
NM_001122769.3(LCA5):c.*875A>G rs180766217 0.00100
NM_001122769.3(LCA5):c.-414C>T rs538864087 0.00066
NM_001122769.3(LCA5):c.*344T>C rs571100363 0.00060
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166 0.00045
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001122769.3(LCA5):c.*903A>G rs150693125 0.00028
NM_001122769.3(LCA5):c.*892A>G rs139670091 0.00026
NM_001122769.3(LCA5):c.*842A>G rs746828530 0.00025
NM_001122769.3(LCA5):c.-192+62T>G rs9343917 0.00025
NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly) rs186642323 0.00025
NM_001122769.3(LCA5):c.768G>A (p.Gln256=) rs142495741 0.00024
NM_001122769.3(LCA5):c.1366G>A (p.Gly456Arg) rs149091694 0.00020
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser) rs181890907 0.00020
NM_001122769.3(LCA5):c.*1316C>T rs552095479 0.00019
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_001122769.3(LCA5):c.-264A>C rs558234494 0.00018
NM_001122769.3(LCA5):c.1099-12A>G rs192066914 0.00016
NM_001122769.3(LCA5):c.*1002A>G rs930745321 0.00015
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135 0.00014
NM_001122769.3(LCA5):c.-429G>A rs541304321 0.00013
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001122769.3(LCA5):c.*91A>G rs904422663 0.00011
NM_001122769.3(LCA5):c.281G>A (p.Arg94Gln) rs34531407 0.00011
NM_001122769.3(LCA5):c.*958G>A rs188791703 0.00009
NM_001122769.3(LCA5):c.1424A>G (p.Asp475Gly) rs145058393 0.00009
NM_001122769.3(LCA5):c.2047G>C (p.Ala683Pro) rs190470567 0.00009
NM_001122769.3(LCA5):c.*1204A>C rs777514166 0.00007
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682 0.00006
NM_001122769.3(LCA5):c.1489T>C (p.Ser497Pro) rs773531972 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001122769.3(LCA5):c.*628T>G rs1211696258 0.00005
NM_001122769.3(LCA5):c.1055T>C (p.Met352Thr) rs1161878963 0.00005
NM_001122769.3(LCA5):c.839G>A (p.Arg280Gln) rs542672738 0.00005
NM_001122769.3(LCA5):c.*1103T>C rs914681205 0.00004
NM_001122769.3(LCA5):c.*1137G>T rs528853254 0.00004
NM_001122769.3(LCA5):c.-348C>T rs74442236 0.00004
NM_001122769.3(LCA5):c.1138G>A (p.Gly380Arg) rs201814494 0.00004
NM_001122769.3(LCA5):c.1181C>G (p.Thr394Arg) rs369178808 0.00004
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001122769.3(LCA5):c.488G>A (p.Arg163His) rs189168054 0.00004
NM_001122769.3(LCA5):c.511C>T (p.Leu171Phe) rs745520623 0.00004
NM_001122769.3(LCA5):c.*1191T>G rs921806721 0.00003
NM_001122769.3(LCA5):c.-200G>A rs886061792 0.00003
NM_001122769.3(LCA5):c.-424C>G rs886061795 0.00003
NM_001122769.3(LCA5):c.1825T>C (p.Phe609Leu) rs778698913 0.00003
NM_001122769.3(LCA5):c.2028C>T (p.Asp676=) rs768387283 0.00003
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970 0.00003
NM_001122769.3(LCA5):c.687G>C (p.Glu229Asp) rs201349266 0.00003
NM_001122769.3(LCA5):c.*1232T>G rs1278278130 0.00002
NM_001122769.3(LCA5):c.*1543T>C rs886061786 0.00002
NM_001122769.3(LCA5):c.*617T>C rs573627037 0.00002
NM_001122769.3(LCA5):c.1062C>T (p.Tyr354=) rs183261547 0.00002
NM_001122769.3(LCA5):c.1080A>G (p.Glu360=) rs779447463 0.00002
NM_001122769.3(LCA5):c.1157T>G (p.Met386Arg) rs372872674 0.00002
NM_001122769.3(LCA5):c.1415A>G (p.Asn472Ser) rs751852107 0.00002
NM_001122769.3(LCA5):c.1581C>G (p.Ile527Met) rs760574956 0.00002
NM_001122769.3(LCA5):c.1787C>T (p.Thr596Ile) rs1001422592 0.00002
NM_001122769.3(LCA5):c.497A>G (p.Asn166Ser) rs1006764386 0.00002
NM_001122769.3(LCA5):c.520C>T (p.Arg174Cys) rs374629518 0.00002
NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala) rs371429608 0.00002
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter) rs1318750068 0.00002
NM_001122769.3(LCA5):c.664G>C (p.Ala222Pro) rs779230735 0.00002
NM_001122769.3(LCA5):c.98C>T (p.Ser33Phe) rs745815628 0.00002
NM_001122769.3(LCA5):c.*29G>T rs534130467 0.00001
NM_001122769.3(LCA5):c.*473T>C rs528150967 0.00001
NM_001122769.3(LCA5):c.-191-6065C>A rs79765454 0.00001
NM_001122769.3(LCA5):c.-400G>T rs1194453509 0.00001
NM_001122769.3(LCA5):c.1016T>C (p.Phe339Ser) rs771402955 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001122769.3(LCA5):c.108A>G (p.Ser36=) rs1196957609 0.00001
NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter) rs1766524422 0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=) rs199557499 0.00001
NM_001122769.3(LCA5):c.1518C>T (p.Pro506=) rs769091728 0.00001
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479 0.00001
NM_001122769.3(LCA5):c.1600G>A (p.Gly534Arg) rs376484071 0.00001
NM_001122769.3(LCA5):c.1654G>A (p.Ala552Thr) rs547237643 0.00001
NM_001122769.3(LCA5):c.1669G>A (p.Val557Met) rs751306706 0.00001
NM_001122769.3(LCA5):c.1677G>A (p.Ser559=) rs144098531 0.00001
NM_001122769.3(LCA5):c.1727T>C (p.Phe576Ser) rs1674669719 0.00001
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) rs772573829 0.00001
NM_001122769.3(LCA5):c.181C>T (p.His61Tyr) rs768698579 0.00001
NM_001122769.3(LCA5):c.191-3T>A rs886061790 0.00001
NM_001122769.3(LCA5):c.1952A>G (p.His651Arg) rs369558299 0.00001
NM_001122769.3(LCA5):c.19A>G (p.Ser7Gly) rs746949921 0.00001
NM_001122769.3(LCA5):c.2057C>G (p.Ser686Cys) rs778650730 0.00001
NM_001122769.3(LCA5):c.2083G>A (p.Ala695Thr) rs186454340 0.00001
NM_001122769.3(LCA5):c.2087T>C (p.Leu696Pro) rs758968702 0.00001
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395 0.00001
NM_001122769.3(LCA5):c.307C>T (p.Arg103Trp) rs757969727 0.00001
NM_001122769.3(LCA5):c.685G>C (p.Glu229Gln) rs770888765 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter) rs1453987164 0.00001
NM_001122769.3(LCA5):c.859-2A>G rs757681601 0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001122769.3(LCA5):c.956-5del rs1383933327 0.00001
NM_001122769.3(LCA5):c.*1113G>A rs886061787
NM_001122769.3(LCA5):c.*1234A>C rs1028375075
NM_001122769.3(LCA5):c.*1261A>G rs1769633494
NM_001122769.3(LCA5):c.*1326A>G rs568376970
NM_001122769.3(LCA5):c.*1385T>C rs553148047
NM_001122769.3(LCA5):c.*1559T>C rs886061785
NM_001122769.3(LCA5):c.*1680C>A rs886061784
NM_001122769.3(LCA5):c.*1851A>G rs1769610596
NM_001122769.3(LCA5):c.*464C>T rs955948481
NM_001122769.3(LCA5):c.*497G>A rs114346256
NM_001122769.3(LCA5):c.*634A>C rs577878179
NM_001122769.3(LCA5):c.*763A>G rs1769649594
NM_001122769.3(LCA5):c.*815A>C rs886061788
NM_001122769.3(LCA5):c.*838C>G rs1341159813
NM_001122769.3(LCA5):c.-304A>T rs886061794
NM_001122769.3(LCA5):c.-398G>C rs370115829
NM_001122769.3(LCA5):c.-398G>T rs370115829
NM_001122769.3(LCA5):c.-39T>C rs886061791
NM_001122769.3(LCA5):c.1049C>T (p.Thr350Ile) rs375310752
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter) rs183261547
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter) rs183261547
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) rs1769845495
NM_001122769.3(LCA5):c.1085G>T (p.Gly362Val) rs899869772
NM_001122769.3(LCA5):c.1099-1G>A
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter) rs1769761816
NM_001122769.3(LCA5):c.122del (p.Ser41fs)
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)
NM_001122769.3(LCA5):c.1242A>G (p.Arg414=) rs1769717155
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) rs1268307330
NM_001122769.3(LCA5):c.129dup (p.Ala44fs)
NM_001122769.3(LCA5):c.1368dup (p.Glu457fs) rs2127666004
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter) rs2127665995
NM_001122769.3(LCA5):c.137T>A (p.Val46Asp) rs765571375
NM_001122769.3(LCA5):c.1397T>G (p.Met466Arg) rs1562093393
NM_001122769.3(LCA5):c.1466del (p.Leu489fs) rs1240302846
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) rs1769706250
NM_001122769.3(LCA5):c.1523C>T (p.Thr508Ile) rs1189990227
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs) rs1769703329
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)
NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)
NM_001122769.3(LCA5):c.1656A>G (p.Ala552=) rs368885365
NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)
NM_001122769.3(LCA5):c.1730dup (p.Leu577fs)
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.1785T>A (p.Ile595=) rs544388502
NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)
NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs)
NM_001122769.3(LCA5):c.186C>G (p.His62Gln) rs1219803534
NM_001122769.3(LCA5):c.190+1G>A rs746351112
NM_001122769.3(LCA5):c.1970T>C (p.Phe657Ser) rs1769683386
NM_001122769.3(LCA5):c.1990A>G (p.Ser664Gly) rs552712900
NM_001122769.3(LCA5):c.2006G>A (p.Arg669Lys) rs371733166
NM_001122769.3(LCA5):c.2033A>C (p.Lys678Thr) rs1769680029
NM_001122769.3(LCA5):c.211A>G (p.Lys71Glu) rs886061789
NM_001122769.3(LCA5):c.289A>G (p.Thr97Ala) rs1387796294
NM_001122769.3(LCA5):c.30dup (p.Asp11Ter) rs1248460033
NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)
NM_001122769.3(LCA5):c.386del (p.Leu129fs)
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly) rs1766318937
NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)
NM_001122769.3(LCA5):c.41del (p.Arg14fs)
NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)
NM_001122769.3(LCA5):c.491A>G (p.His164Arg)
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.527_529del (p.Arg176del) rs1766311895
NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs) rs1766311263
NM_001122769.3(LCA5):c.551C>T (p.Ala184Val) rs758637325
NM_001122769.3(LCA5):c.574dup (p.Thr192fs) rs1057519136
NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter) rs1766298401
NM_001122769.3(LCA5):c.642C>T (p.His214=) rs541395332
NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)
NM_001122769.3(LCA5):c.735C>T (p.Asn245=) rs781334192
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.759C>T (p.Phe253=) rs528612334
NM_001122769.3(LCA5):c.790G>T (p.Ala264Ser) rs1582618974
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001122769.3(LCA5):c.859-12G>A rs115317386
NM_001122769.3(LCA5):c.859-12G>C rs115317386
NM_001122769.3(LCA5):c.887del (p.Asn296fs)
NM_001122769.3(LCA5):c.93del (p.Gln31fs) rs1766528592
NM_001122769.3(LCA5):c.953dup (p.Asn318fs) rs1429753961
NM_001122769.3(LCA5):c.955+1G>A
NM_181714.4(LCA5):c.0_-298+211del
NM_181714.4(LCA5):c.1569_1582del (p.His523fs)

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