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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 45

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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.1108C>T (p.Pro370Ser)	rs139079107
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)	rs62653020
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.97-15C>T	rs190887679

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