ClinVar Miner

List of variants studied for Leber congenital amaurosis by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001164688.2(RD3):c.-201_-200insC rs11463656 0.65004
NM_004744.5(LRAT):c.*2670G>T rs17032000 0.13064
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_004744.5(LRAT):c.*1338T>G rs12507608 0.09793
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_004744.5(LRAT):c.*3618G>A rs17032002 0.02639
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NR_148338.1(LOC107986845):n.884G>A rs183121204 0.00938
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_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
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.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
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_001009894.3(RLIG1):c.*743_*746del rs142288119
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.*1307_*1308insCT rs142577368
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_002242.4(KCNJ13):c.-74CT[1] rs5839447
NM_003322.6(TULP1):c.*273del rs112061946
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
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_*152del rs77115868
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.3574-9del rs10717563
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.6522+5dup rs11405846
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869

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