ClinVar Miner

List of variants in gene AIPL1 studied for Retinitis Pigmentosa, Recessive

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.*606G>A rs10852881 0.63496
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_014336.5(AIPL1):c.*753G>A rs62060993 0.51826
NM_014336.5(AIPL1):c.*1391C>T rs907939 0.11244
NM_014336.5(AIPL1):c.*1202C>T rs907937 0.10352
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_014336.5(AIPL1):c.*1018G>A rs2871287 0.08814
NM_014336.5(AIPL1):c.*1658T>C rs78526307 0.05230
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_014336.5(AIPL1):c.*134G>T rs2090068 0.01001
NM_014336.5(AIPL1):c.*1178C>T rs149460055 0.00841
NM_014336.5(AIPL1):c.*1237C>T rs139074266 0.00803
NM_014336.5(AIPL1):c.*188G>A rs1317185 0.00763
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_014336.5(AIPL1):c.*390G>T rs182504714 0.00334
NM_014336.5(AIPL1):c.*221G>A rs112307858 0.00302
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_014336.5(AIPL1):c.*53C>T rs151279098 0.00200
NM_014336.5(AIPL1):c.*1007C>T rs111456528 0.00192
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_014336.5(AIPL1):c.*824G>C rs145706166 0.00065
NM_014336.5(AIPL1):c.97-15C>T rs190887679 0.00051
NM_014336.4(AIPL1):c.-52G>T rs377376064 0.00048
NM_014336.5(AIPL1):c.*748C>T rs543789961 0.00023
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00008
NM_014336.5(AIPL1):c.*147A>C rs886053267 0.00007
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986 0.00006
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_014336.5(AIPL1):c.*1017C>T rs868498336 0.00003
NM_014336.5(AIPL1):c.*1444G>A rs886053258 0.00003
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898 0.00002
NM_014336.5(AIPL1):c.*1455G>T rs886053257 0.00001
NM_014336.5(AIPL1):c.389A>G (p.His130Arg) rs750182458 0.00001
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1335A>C rs886053260
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*1459G>T rs886053256
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.*1550A>C rs181055698
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) rs886053268

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