ClinVar Miner

List of variants reported as likely benign for AIPL1-related retinopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.97-15C>T rs190887679 0.00051
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) rs142319505 0.00045
NM_014336.5(AIPL1):c.383C>T (p.Ala128Val) rs145466901 0.00023
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_014336.5(AIPL1):c.117C>A (p.Thr39=) rs139244717 0.00018
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_014336.5(AIPL1):c.915G>C (p.Leu305=) rs369483430 0.00014
NM_014336.5(AIPL1):c.276+17C>T rs755111451 0.00011
NM_014336.5(AIPL1):c.1047G>A (p.Glu349=) rs777042856 0.00009
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys) rs187653323 0.00008
NM_014336.5(AIPL1):c.360G>A (p.Thr120=) rs372906107 0.00006
NM_014336.5(AIPL1):c.363C>T (p.Cys121=) rs765121760 0.00006
NM_014336.5(AIPL1):c.97-14G>A rs770614172 0.00006
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_014336.5(AIPL1):c.900G>C (p.Ala300=) rs373590751 0.00005
NM_014336.5(AIPL1):c.9C>T (p.Ala3=) rs144074523 0.00004
NM_014336.5(AIPL1):c.51G>A (p.Leu17=) rs765416489 0.00003
NM_014336.5(AIPL1):c.785-11G>A rs199772097 0.00003
NM_014336.5(AIPL1):c.240G>T (p.Arg80=) rs917542921 0.00002
NM_014336.5(AIPL1):c.351C>T (p.His117=) rs370312709 0.00002
NM_014336.5(AIPL1):c.384C>T (p.Ala128=) rs758056082 0.00002
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898 0.00002
NM_014336.5(AIPL1):c.673C>T (p.Leu225=) rs763372162 0.00002
NM_014336.5(AIPL1):c.813C>T (p.Ala271=) rs776640481 0.00002
NM_014336.5(AIPL1):c.141A>T (p.Thr47=) rs780023377 0.00001
NM_014336.5(AIPL1):c.189C>T (p.Ile63=) rs764653700 0.00001
NM_014336.5(AIPL1):c.276+18G>A rs369895657 0.00001
NM_014336.5(AIPL1):c.333G>A (p.Lys111=) rs762780829 0.00001
NM_014336.5(AIPL1):c.33G>C (p.Gly11=) rs369223841 0.00001
NM_014336.5(AIPL1):c.402C>T (p.Tyr134=) rs202187603 0.00001
NM_014336.5(AIPL1):c.453C>T (p.Ile151=) rs727503799 0.00001
NM_014336.5(AIPL1):c.531G>A (p.Ala177=) rs902464819 0.00001
NM_014336.5(AIPL1):c.543C>A (p.Leu181=) rs776046035 0.00001
NM_014336.5(AIPL1):c.643-5G>A rs375847248 0.00001
NM_014336.5(AIPL1):c.643-9C>T rs758284298 0.00001
NM_014336.5(AIPL1):c.645G>A (p.Glu215=) rs1297434866 0.00001
NM_014336.5(AIPL1):c.660G>A (p.Val220=) rs974075633 0.00001
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln) rs751881283 0.00001
NM_014336.5(AIPL1):c.810T>C (p.Arg270=) rs751671266 0.00001
NM_014336.5(AIPL1):c.819T>C (p.Ala273=) rs747219996 0.00001
NM_014336.5(AIPL1):c.939G>A (p.Ala313=) rs200401166 0.00001
NM_014336.5(AIPL1):c.96+13C>A rs1213538509 0.00001
NM_014336.5(AIPL1):c.96+17C>A rs552445309 0.00001
NM_014336.5(AIPL1):c.961C>T (p.Leu321=) rs779791471 0.00001
NM_014336.5(AIPL1):c.1002T>G (p.Pro334=)
NM_014336.5(AIPL1):c.1005C>T (p.Pro335=)
NM_014336.5(AIPL1):c.1029C>T (p.Pro343=) rs1911839985
NM_014336.5(AIPL1):c.1044A>C (p.Thr348=)
NM_014336.5(AIPL1):c.1074A>G (p.Pro358=) rs2150673928
NM_014336.5(AIPL1):c.1080A>C (p.Ala360=)
NM_014336.5(AIPL1):c.1084C>T (p.Leu362=)
NM_014336.5(AIPL1):c.1089C>G (p.Ser363=)
NM_014336.5(AIPL1):c.1095G>T (p.Gly365=) rs1911829075
NM_014336.5(AIPL1):c.1116A>C (p.Thr372=)
NM_014336.5(AIPL1):c.1128G>A (p.Pro376=)
NM_014336.5(AIPL1):c.1143G>A (p.Ser381=)
NM_014336.5(AIPL1):c.1143G>C (p.Ser381=)
NM_014336.5(AIPL1):c.1143G>T (p.Ser381=)
NM_014336.5(AIPL1):c.129T>C (p.Asp43=)
NM_014336.5(AIPL1):c.136C>A (p.Arg46=)
NM_014336.5(AIPL1):c.144C>G (p.Val48=)
NM_014336.5(AIPL1):c.147T>C (p.Ile49=)
NM_014336.5(AIPL1):c.150C>T (p.Asp50=)
NM_014336.5(AIPL1):c.174C>G (p.Pro58=)
NM_014336.5(AIPL1):c.174C>T (p.Pro58=)
NM_014336.5(AIPL1):c.207C>A (p.Leu69=)
NM_014336.5(AIPL1):c.207C>G (p.Leu69=)
NM_014336.5(AIPL1):c.207C>T (p.Leu69=)
NM_014336.5(AIPL1):c.219G>A (p.Glu73=)
NM_014336.5(AIPL1):c.21G>C (p.Leu7=)
NM_014336.5(AIPL1):c.238C>A (p.Arg80=) rs748210823
NM_014336.5(AIPL1):c.255C>G (p.Ala85=)
NM_014336.5(AIPL1):c.255C>T (p.Ala85=)
NM_014336.5(AIPL1):c.270C>T (p.Asp90=)
NM_014336.5(AIPL1):c.273C>G (p.Thr91=)
NM_014336.5(AIPL1):c.276+10C>A
NM_014336.5(AIPL1):c.276+12C>G
NM_014336.5(AIPL1):c.276+12del rs1443673396
NM_014336.5(AIPL1):c.276+15C>A
NM_014336.5(AIPL1):c.276+15C>T rs781192944
NM_014336.5(AIPL1):c.276+16G>A rs1165122917
NM_014336.5(AIPL1):c.276+16_276+17delinsTT rs2150691754
NM_014336.5(AIPL1):c.276+7dup
NM_014336.5(AIPL1):c.277-15C>T
NM_014336.5(AIPL1):c.277-16C>T rs1035614640
NM_014336.5(AIPL1):c.277-19C>T rs1912241785
NM_014336.5(AIPL1):c.277-6C>T
NM_014336.5(AIPL1):c.277-8C>T
NM_014336.5(AIPL1):c.282G>A (p.Thr94=)
NM_014336.5(AIPL1):c.285G>A (p.Gly95=)
NM_014336.5(AIPL1):c.288C>G (p.Val96=)
NM_014336.5(AIPL1):c.294C>T (p.Pro98=)
NM_014336.5(AIPL1):c.306G>A (p.Arg102=)
NM_014336.5(AIPL1):c.327G>A (p.Gln109=) rs751231254
NM_014336.5(AIPL1):c.330C>T (p.Gly110=)
NM_014336.5(AIPL1):c.357C>T (p.His119=)
NM_014336.5(AIPL1):c.360G>T (p.Thr120=)
NM_014336.5(AIPL1):c.381C>T (p.Phe127=)
NM_014336.5(AIPL1):c.393G>A (p.Thr131=) rs1179777392
NM_014336.5(AIPL1):c.393G>C (p.Thr131=) rs1179777392
NM_014336.5(AIPL1):c.418C>T (p.Leu140=)
NM_014336.5(AIPL1):c.420G>A (p.Leu140=)
NM_014336.5(AIPL1):c.426G>A (p.Lys142=)
NM_014336.5(AIPL1):c.459G>A (p.Leu153=)
NM_014336.5(AIPL1):c.462G>A (p.Leu154=)
NM_014336.5(AIPL1):c.465+11G>C
NM_014336.5(AIPL1):c.465+13T>A
NM_014336.5(AIPL1):c.465+16G>T
NM_014336.5(AIPL1):c.465+19G>A
NM_014336.5(AIPL1):c.465+19G>T
NM_014336.5(AIPL1):c.465+20G>C
NM_014336.5(AIPL1):c.465+20G>T
NM_014336.5(AIPL1):c.465+9G>C
NM_014336.5(AIPL1):c.466-10C>T
NM_014336.5(AIPL1):c.466-20_466-16del
NM_014336.5(AIPL1):c.477G>A (p.Pro159=)
NM_014336.5(AIPL1):c.48T>A (p.Ile16=)
NM_014336.5(AIPL1):c.49C>T (p.Leu17=)
NM_014336.5(AIPL1):c.507G>A (p.Leu169=)
NM_014336.5(AIPL1):c.510C>T (p.Ser170=)
NM_014336.5(AIPL1):c.537C>T (p.Pro179=)
NM_014336.5(AIPL1):c.540C>A (p.Val180=)
NM_014336.5(AIPL1):c.546C>T (p.His182=)
NM_014336.5(AIPL1):c.54C>T (p.His18=)
NM_014336.5(AIPL1):c.561G>C (p.Arg187=)
NM_014336.5(AIPL1):c.567C>T (p.Phe189=)
NM_014336.5(AIPL1):c.582C>T (p.Tyr194=)
NM_014336.5(AIPL1):c.585G>A (p.Glu195=) rs2150677666
NM_014336.5(AIPL1):c.600G>A (p.Lys200=) rs2150677591
NM_014336.5(AIPL1):c.633G>T (p.Leu211=)
NM_014336.5(AIPL1):c.642+11G>T
NM_014336.5(AIPL1):c.642+19G>A
NM_014336.5(AIPL1):c.642+20G>C
NM_014336.5(AIPL1):c.642+8G>A
NM_014336.5(AIPL1):c.642+8G>T
NM_014336.5(AIPL1):c.643-10C>A
NM_014336.5(AIPL1):c.643-16C>G
NM_014336.5(AIPL1):c.643-16C>T
NM_014336.5(AIPL1):c.643-18G>A
NM_014336.5(AIPL1):c.643-4G>A
NM_014336.5(AIPL1):c.643-7T>C
NM_014336.5(AIPL1):c.651A>T (p.Pro217=)
NM_014336.5(AIPL1):c.657G>A (p.Glu219=)
NM_014336.5(AIPL1):c.663G>A (p.Gln221=)
NM_014336.5(AIPL1):c.667C>T (p.Leu223=)
NM_014336.5(AIPL1):c.699C>A (p.Ile233=)
NM_014336.5(AIPL1):c.699C>T (p.Ile233=)
NM_014336.5(AIPL1):c.717C>T (p.Cys239=)
NM_014336.5(AIPL1):c.720G>A (p.Leu240=)
NM_014336.5(AIPL1):c.721C>T (p.Leu241=)
NM_014336.5(AIPL1):c.729G>A (p.Lys243=)
NM_014336.5(AIPL1):c.72C>T (p.Leu24=)
NM_014336.5(AIPL1):c.741T>C (p.Tyr247=)
NM_014336.5(AIPL1):c.771C>T (p.Leu257=) rs781449220
NM_014336.5(AIPL1):c.772C>A (p.Arg258=)
NM_014336.5(AIPL1):c.777C>T (p.His259=)
NM_014336.5(AIPL1):c.784+10G>C
NM_014336.5(AIPL1):c.784+17G>A
NM_014336.5(AIPL1):c.784+20C>A
NM_014336.5(AIPL1):c.784+20C>T
NM_014336.5(AIPL1):c.784+7G>A
NM_014336.5(AIPL1):c.784+7G>C
NM_014336.5(AIPL1):c.785-12T>C
NM_014336.5(AIPL1):c.785-14C>T
NM_014336.5(AIPL1):c.785-4A>G
NM_014336.5(AIPL1):c.78C>T (p.Asn26=) rs1403472603
NM_014336.5(AIPL1):c.804C>T (p.Tyr268=)
NM_014336.5(AIPL1):c.807G>A (p.Val269=)
NM_014336.5(AIPL1):c.822C>T (p.His274=)
NM_014336.5(AIPL1):c.843C>G (p.Ala281=)
NM_014336.5(AIPL1):c.843C>T (p.Ala281=)
NM_014336.5(AIPL1):c.855G>A (p.Ala285=)
NM_014336.5(AIPL1):c.867A>G (p.Lys289=)
NM_014336.5(AIPL1):c.882G>A (p.Glu294=) rs2150674758
NM_014336.5(AIPL1):c.885G>A (p.Pro295=)
NM_014336.5(AIPL1):c.900G>A (p.Ala300=)
NM_014336.5(AIPL1):c.939G>C (p.Ala313=)
NM_014336.5(AIPL1):c.954G>A (p.Glu318=)
NM_014336.5(AIPL1):c.96+10G>A
NM_014336.5(AIPL1):c.96+10G>T
NM_014336.5(AIPL1):c.96+15T>A
NM_014336.5(AIPL1):c.96+7G>T
NM_014336.5(AIPL1):c.963G>A (p.Leu321=) rs1010625543
NM_014336.5(AIPL1):c.969C>T (p.Cys323=)
NM_014336.5(AIPL1):c.97-10C>T rs758429483
NM_014336.5(AIPL1):c.97-18C>T
NM_014336.5(AIPL1):c.970C>A (p.Arg324=) rs375096209
NM_014336.5(AIPL1):c.972G>A (p.Arg324=)
NM_014336.5(AIPL1):c.972G>T (p.Arg324=)
NM_014336.5(AIPL1):c.981G>A (p.Leu327=)
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala) rs16955859
NM_014336.5(AIPL1):c.996G>A (p.Thr332=)
NM_014336.5(AIPL1):c.996G>T (p.Thr332=)
NM_014336.5(AIPL1):c.9C>A (p.Ala3=)

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