ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_004744.5(LRAT):c.*3264G>A rs115053323 0.00575
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562 0.00456
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871 0.00287
NM_004744.5(LRAT):c.*3T>G rs200942685 0.00202
NM_004744.5(LRAT):c.*3712G>C rs144961748 0.00172
NM_004744.5(LRAT):c.*3819T>C rs191600425 0.00153
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099 0.00061
NM_014336.4(AIPL1):c.-52G>T rs377376064 0.00048
NM_004744.5(LRAT):c.*640T>C rs574458445 0.00043
NM_001164688.2(RD3):c.-293_-292dup rs1491560139 0.00028
NM_002242.4(KCNJ13):c.*1482_*1484del rs774385692 0.00019
NM_004744.5(LRAT):c.-2+7A>C rs886059161 0.00016
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_004744.5(LRAT):c.*549T>C rs886059165 0.00010
NM_004744.5(LRAT):c.*98C>T rs529360609 0.00010
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_004744.5(LRAT):c.*1585T>G rs886059168 0.00006
NM_201253.3(CRB1):c.1172-15T>A rs375141011 0.00006
NM_001122769.3(LCA5):c.*35del rs747368961 0.00003
NM_004744.5(LRAT):c.*2453C>A rs886059171 0.00003
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916 0.00001
NM_000329.3(RPE65):c.*735del rs577675068
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001164688.2(RD3):c.*1305del rs886045896
NM_001164688.2(RD3):c.*1582del rs879756831
NM_001164688.2(RD3):c.*1582dup rs879756831
NM_001164688.2(RD3):c.*1583del rs775682217
NM_001164688.2(RD3):c.-166GA[1] rs886045903
NM_001164688.2(RD3):c.-292_-291del rs1553282313
NM_001164688.2(RD3):c.-302_-294delinsC rs886045910
NM_001164688.2(RD3):c.-304_-294delinsC rs886045911
NM_001164688.2(RD3):c.-336AC[16] rs34485370
NM_001164688.2(RD3):c.-336AC[19] rs34485370
NM_001164688.2(RD3):c.-336AC[20] rs34485370
NM_001164688.2(RD3):c.-336AC[21] rs34485370
NM_001164688.2(RD3):c.-336AC[23] rs34485370
NM_001164688.2(RD3):c.-336AC[24] rs34485370
NM_001164688.2(RD3):c.-337_-336del rs886045915
NM_001164688.2(RD3):c.-340_-337del rs886045916
NM_002242.4(KCNJ13):c.*1742dup rs746052279
NM_002242.4(KCNJ13):c.*179CT[1] rs758195599
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_201253.3(CRB1):c.*331_*337dup rs886045790

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.