ClinVar Miner

List of variants reported as uncertain significance for LCA5-related retinopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.*1044A>C rs1057174 0.02673
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.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.*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.*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.*1204A>C rs777514166 0.00007
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682 0.00006
NM_001122769.3(LCA5):c.*628T>G rs1211696258 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.*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.2028C>T (p.Asp676=) rs768387283 0.00003
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970 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.1787C>T (p.Thr596Ile) rs1001422592 0.00002
NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala) rs371429608 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.108A>G (p.Ser36=) rs1196957609 0.00001
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=) rs199557499 0.00001
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479 0.00001
NM_001122769.3(LCA5):c.1677G>A (p.Ser559=) rs144098531 0.00001
NM_001122769.3(LCA5):c.191-3T>A rs886061790 0.00001
NM_001122769.3(LCA5):c.19A>G (p.Ser7Gly) rs746949921 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.1397T>G (p.Met466Arg) rs1562093393
NM_001122769.3(LCA5):c.1656A>G (p.Ala552=) rs368885365
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.1970T>C (p.Phe657Ser) rs1769683386
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.859-12G>A rs115317386

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