ClinVar Miner

List of variants in gene LCA5 reported as uncertain significance for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_181714.3(LCA5):c.*1044A>C rs1057174
NM_181714.3(LCA5):c.*1113G>A rs886061787
NM_181714.3(LCA5):c.*1137G>T rs528853254
NM_181714.3(LCA5):c.*1300G>A rs16890805
NM_181714.3(LCA5):c.*1316C>T rs552095479
NM_181714.3(LCA5):c.*1543T>C rs886061786
NM_181714.3(LCA5):c.*1559T>C rs886061785
NM_181714.3(LCA5):c.*1573A>G rs140103894
NM_181714.3(LCA5):c.*1577T>G rs184100878
NM_181714.3(LCA5):c.*1680C>A rs886061784
NM_181714.3(LCA5):c.*1752G>A rs1394281
NM_181714.3(LCA5):c.*22dupT rs767286706
NM_181714.3(LCA5):c.*35delA rs747368961
NM_181714.3(LCA5):c.*473T>C rs528150967
NM_181714.3(LCA5):c.*634A>C rs577878179
NM_181714.3(LCA5):c.*640T>C rs45499200
NM_181714.3(LCA5):c.*815A>C rs886061788
NM_181714.3(LCA5):c.*842A>G rs746828530
NM_181714.3(LCA5):c.*874A>G rs149782333
NM_181714.3(LCA5):c.*875A>G rs180766217
NM_181714.3(LCA5):c.*903A>G rs150693125
NM_181714.3(LCA5):c.-298+13T>G rs9343917
NM_181714.3(LCA5):c.-355G>A rs886061792
NM_181714.3(LCA5):c.-39T>C rs886061791
NM_181714.3(LCA5):c.-406G>A rs886061793
NM_181714.3(LCA5):c.-419A>C rs558234494
NM_181714.3(LCA5):c.-459A>T rs886061794
NM_181714.3(LCA5):c.-503C>T rs74442236
NM_181714.3(LCA5):c.-553G>C rs370115829
NM_181714.3(LCA5):c.-569C>T rs538864087
NM_181714.3(LCA5):c.-579C>G rs886061795
NM_181714.3(LCA5):c.-584G>A rs541304321
NM_181714.3(LCA5):c.1049C>T (p.Thr350Ile) rs375310752
NM_181714.3(LCA5):c.1080A>G (p.Glu360=) rs779447463
NM_181714.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021
NM_181714.3(LCA5):c.1099-12A>G rs192066914
NM_181714.3(LCA5):c.1138G>A (p.Gly380Arg) rs201814494
NM_181714.3(LCA5):c.1181C>G (p.Thr394Arg) rs369178808
NM_181714.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682
NM_181714.3(LCA5):c.1260G>A (p.Lys420=) rs141642284
NM_181714.3(LCA5):c.1497A>G (p.Leu499=) rs199557499
NM_181714.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479
NM_181714.3(LCA5):c.1746C>T (p.Asn582=) rs183011135
NM_181714.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_181714.3(LCA5):c.191-3T>A rs886061790
NM_181714.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166
NM_181714.3(LCA5):c.2028C>T (p.Asp676=) rs768387283
NM_181714.3(LCA5):c.211A>G (p.Lys71Glu) rs886061789
NM_181714.3(LCA5):c.281G>A (p.Arg94Gln) rs34531407
NM_181714.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970
NM_181714.3(LCA5):c.586C>T (p.Leu196=) rs114426854
NM_181714.3(LCA5):c.859-12G>C rs115317386

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