ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
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.1126C>T (p.Pro376Ser) rs61757484 0.00475
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.*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.*150A>C rs886053266 0.00046
NM_014336.5(AIPL1):c.*748C>T rs543789961 0.00023
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_014336.5(AIPL1):c.*1534G>A rs780946014 0.00014
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_014336.5(AIPL1):c.*23C>G rs369568105 0.00010
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_014336.5(AIPL1):c.*280G>A rs886053261 0.00007
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_014336.5(AIPL1):c.785-11G>A rs199772097 0.00003
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083 0.00001
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219 0.00001
NM_014336.5(AIPL1):c.*1289G>A rs11869118
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.*1537C>A rs886053255
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.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909

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