ClinVar Miner

List of variants studied for Leber congenital amaurosis 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014336.5(AIPL1):c.*606G>A rs10852881 0.63496
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_014336.5(AIPL1):c.*753G>A rs62060993 0.51826
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_014336.5(AIPL1):c.*1391C>T rs907939 0.11244
NM_014336.5(AIPL1):c.*1202C>T rs907937 0.10352
NM_014336.5(AIPL1):c.*1018G>A rs2871287 0.08814
NM_014336.5(AIPL1):c.*1658T>C rs78526307 0.05230
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_014336.5(AIPL1):c.*134G>T rs2090068 0.01001
NM_014336.5(AIPL1):c.*1178C>T rs149460055 0.00841
NM_014336.5(AIPL1):c.*1237C>T rs139074266 0.00803
NM_014336.5(AIPL1):c.*188G>A rs1317185 0.00763
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_014336.5(AIPL1):c.*1239C>T rs78705285 0.00564
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_014336.5(AIPL1):c.*873T>G rs148611105 0.00460
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_014336.5(AIPL1):c.*1501G>A rs146027001 0.00351
NM_014336.5(AIPL1):c.*576G>A rs545350972 0.00336
NM_014336.5(AIPL1):c.*390G>T rs182504714 0.00334
NM_014336.5(AIPL1):c.*221G>A rs112307858 0.00302
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_014336.5(AIPL1):c.*53C>T rs151279098 0.00200
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014336.5(AIPL1):c.*1007C>T rs111456528 0.00192
NM_014336.5(AIPL1):c.*1433A>T rs571509415 0.00176
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774 0.00102
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014336.5(AIPL1):c.*824G>C rs145706166 0.00065
NM_014336.5(AIPL1):c.*1527T>G rs549099597 0.00059
NM_014336.5(AIPL1):c.97-15C>T rs190887679 0.00051
NM_014336.5(AIPL1):c.*150A>C rs886053266 0.00046
NM_014336.5(AIPL1):c.*434C>T rs905874402 0.00031
NM_014336.5(AIPL1):c.*748C>T rs543789961 0.00023
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_014336.5(AIPL1):c.*1148G>A rs187274630 0.00017
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_014336.5(AIPL1):c.*1534G>A rs780946014 0.00014
NM_014336.5(AIPL1):c.*23C>G rs369568105 0.00010
NM_014336.5(AIPL1):c.*749G>A rs574921672 0.00009
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00008
NM_014336.5(AIPL1):c.*147A>C rs886053267 0.00007
NM_014336.5(AIPL1):c.*280G>A rs886053261 0.00007
NM_014336.5(AIPL1):c.*1288C>T rs553220927 0.00006
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986 0.00006
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe) rs146153236 0.00006
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_014336.5(AIPL1):c.900G>C (p.Ala300=) rs373590751 0.00005
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile) rs761059176 0.00004
NM_014336.5(AIPL1):c.*1017C>T rs868498336 0.00003
NM_014336.5(AIPL1):c.*112A>T rs953523528 0.00003
NM_014336.5(AIPL1):c.*1444G>A rs886053258 0.00003
NM_014336.5(AIPL1):c.*146A>C rs898046851 0.00003
NM_014336.5(AIPL1):c.*1693C>T rs117697892 0.00003
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr) rs751700711 0.00003
NM_014336.5(AIPL1):c.785-11G>A rs199772097 0.00003
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898 0.00002
NM_014336.5(AIPL1):c.*1455G>T rs886053257 0.00001
NM_014336.5(AIPL1):c.33G>C (p.Gly11=) rs369223841 0.00001
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083 0.00001
NM_014336.5(AIPL1):c.389A>G (p.His130Arg) rs750182458 0.00001
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219 0.00001
NM_014336.5(AIPL1):c.785G>T (p.Gly262Val) rs201428885 0.00001
NM_014336.5(AIPL1):c.939G>A (p.Ala313=) rs200401166 0.00001
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1335A>C rs886053260
NM_014336.5(AIPL1):c.*1459G>T rs886053256
NM_014336.5(AIPL1):c.*148A>C rs79118582
NM_014336.5(AIPL1):c.*1537C>A rs886053255
NM_014336.5(AIPL1):c.*1550A>C rs181055698
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.*164G>A rs1166950496
NM_014336.5(AIPL1):c.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*486G>T rs1230088097
NM_014336.5(AIPL1):c.*564G>A rs1567633310
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) rs201875142
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) rs886053268
NM_014336.5(AIPL1):c.970C>A (p.Arg324=) rs375096209
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala) rs16955859

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