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: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NC_000017.11:g.6435210G>T rs7211442 0.10081
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NC_000017.11:g.6435211G>C 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.421C>T (p.Gln141Ter) rs200125117 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.715T>C (p.Cys239Arg) rs62637012
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.