ClinVar Miner

List of variants in gene AIPL1 studied for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.4(AIPL1):c.-21A>G rs373772674
NM_014336.4(AIPL1):c.-52G>T rs377376064
NM_014336.4(AIPL1):c.-73A>G rs751249166
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.*1007C>T rs111456528
NM_014336.5(AIPL1):c.*1009A>G rs4577135
NM_014336.5(AIPL1):c.*1017C>T rs868498336
NM_014336.5(AIPL1):c.*1018G>A rs2871287
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1178C>T rs149460055
NM_014336.5(AIPL1):c.*1202C>T rs907937
NM_014336.5(AIPL1):c.*1229C>T rs907938
NM_014336.5(AIPL1):c.*1237C>T rs139074266
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1335A>C rs886053260
NM_014336.5(AIPL1):c.*134G>T rs2090068
NM_014336.5(AIPL1):c.*1391C>T rs907939
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*1444G>A rs886053258
NM_014336.5(AIPL1):c.*1455G>T rs886053257
NM_014336.5(AIPL1):c.*1459G>T rs886053256
NM_014336.5(AIPL1):c.*147A>C rs886053267
NM_014336.5(AIPL1):c.*150A>C rs886053266
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.*1534G>A rs780946014
NM_014336.5(AIPL1):c.*1537C>A rs886053255
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*153del rs886053264
NM_014336.5(AIPL1):c.*1550A>C rs181055698
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.*1658T>C rs78526307
NM_014336.5(AIPL1):c.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*188G>A rs1317185
NM_014336.5(AIPL1):c.*221G>A rs112307858
NM_014336.5(AIPL1):c.*23C>G rs369568105
NM_014336.5(AIPL1):c.*280G>A rs886053261
NM_014336.5(AIPL1):c.*33A>C rs140472462
NM_014336.5(AIPL1):c.*390G>T rs182504714
NM_014336.5(AIPL1):c.*53C>T rs151279098
NM_014336.5(AIPL1):c.*606G>A rs10852881
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*748C>T rs543789961
NM_014336.5(AIPL1):c.*753G>A rs62060993
NM_014336.5(AIPL1):c.*824G>C rs145706166
NM_014336.5(AIPL1):c.*887_*891CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.-17C>A rs188246267
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.5(AIPL1):c.277-10A>C rs12453262
NM_014336.5(AIPL1):c.277-14G>A rs117749485
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978
NM_014336.5(AIPL1):c.389A>G (p.His130Arg) rs750182458
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219
NM_014336.5(AIPL1):c.642+14G>A rs188779461
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del)
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) rs886053268
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845
NM_014336.5(AIPL1):c.785-11G>A rs199772097
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.5(AIPL1):c.97-15C>T rs190887679
NM_014336.5(AIPL1):c.97-9G>A rs140124986

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