ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014336.4(AIPL1):c.-52G>T rs377376064 0.00048
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.*1398G>A rs886053259
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.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) rs1200311161
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) rs1208703297

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