ClinVar Miner

List of variants in gene AIPL1 reported as uncertain significance for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
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_014336.5(AIPL1):c.*1007C>T rs111456528
NM_014336.5(AIPL1):c.*1017C>T rs868498336
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1335A>C rs886053260
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_*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.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*23C>G rs369568105
NM_014336.5(AIPL1):c.*280G>A rs886053261
NM_014336.5(AIPL1):c.*53C>T rs151279098
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*748C>T rs543789961
NM_014336.5(AIPL1):c.*887_*891CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.-17C>A rs188246267
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.276+6T>C rs1567644165
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986
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.616A>G (p.Ile206Val) rs772911646
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219
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.780C>T (p.His260=) rs145304845
NM_014336.5(AIPL1):c.785-11G>A rs199772097
NM_014336.5(AIPL1):c.857A>T (p.Asp286Val) rs1567635290
NM_014336.5(AIPL1):c.97-15C>T rs190887679
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474

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