ClinVar Miner

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

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Total variants: 13
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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.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
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.*153del rs886053264
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887_*891CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del) rs1200311161

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