ClinVar Miner

List of variants in gene GATAD1, PEX1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 454
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_000466.3(PEX1):c.*292G>A rs138531138 0.00159
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu) rs200059929 0.00024
NM_000466.3(PEX1):c.3030+19G>C rs372197553 0.00023
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 0.00018
NM_000466.3(PEX1):c.3343G>A (p.Glu1115Lys) rs372796096 0.00017
NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln) rs773206107 0.00016
NM_000466.3(PEX1):c.3439-16A>G rs563019269 0.00016
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899 0.00012
NM_000466.3(PEX1):c.3207+15G>A rs779395013 0.00012
NM_000466.3(PEX1):c.2954G>A (p.Arg985His) rs202057449 0.00011
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg) rs200306465 0.00010
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331 0.00009
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=) rs375213175 0.00008
NM_000466.3(PEX1):c.*428A>G rs769772779 0.00007
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe) rs185115432 0.00007
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_000466.3(PEX1):c.3009A>G (p.Val1003=) rs560095065 0.00006
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys) rs371988432 0.00005
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln) rs767337582 0.00005
NM_000466.3(PEX1):c.*133G>C rs886062500 0.00004
NM_000466.3(PEX1):c.*234T>C rs1004289500 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys) rs547203417 0.00003
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000466.3(PEX1):c.3344A>G (p.Glu1115Gly) rs762474729 0.00003
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355 0.00003
NM_000466.3(PEX1):c.*180A>G rs996832628 0.00002
NM_000466.3(PEX1):c.2784-15G>T rs749338208 0.00002
NM_000466.3(PEX1):c.2961C>T (p.Asp987=) rs750723164 0.00002
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713 0.00002
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys) rs1198978658 0.00002
NM_000466.3(PEX1):c.3824G>A (p.Arg1275Gln) rs150793635 0.00002
NM_000466.3(PEX1):c.*236C>A rs1403267319 0.00001
NM_000466.3(PEX1):c.2789A>G (p.Gln930Arg) rs201376737 0.00001
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val) rs753349772 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2853T>C (p.His951=) rs768094112 0.00001
NM_000466.3(PEX1):c.2895G>C (p.Leu965=) rs1585221185 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.2927-6C>T rs770779494 0.00001
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.2934T>C (p.Tyr978=) rs755770436 0.00001
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val) rs780843399 0.00001
NM_000466.3(PEX1):c.2947A>C (p.Thr983Pro) rs1791533248 0.00001
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln) rs61750429 0.00001
NM_000466.3(PEX1):c.3007G>A (p.Val1003Ile) rs147055244 0.00001
NM_000466.3(PEX1):c.3030+7A>G rs373933048 0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) rs1484321655 0.00001
NM_000466.3(PEX1):c.3042T>G (p.Leu1014=) rs746546952 0.00001
NM_000466.3(PEX1):c.3102T>C (p.His1034=) rs1199510404 0.00001
NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile) rs138992611 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3207+9T>C rs771463817 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.3208-3T>C rs763767937 0.00001
NM_000466.3(PEX1):c.3208-9G>T rs1381356182 0.00001
NM_000466.3(PEX1):c.3222C>T (p.Ser1074=) rs1327864856 0.00001
NM_000466.3(PEX1):c.3282C>T (p.Asp1094=) rs577474412 0.00001
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg) rs752475812 0.00001
NM_000466.3(PEX1):c.3369C>T (p.Phe1123=) rs773621481 0.00001
NM_000466.3(PEX1):c.3383T>A (p.Leu1128His) rs747206901 0.00001
NM_000466.3(PEX1):c.3439-13A>G rs756042510 0.00001
NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe) rs375607384 0.00001
NM_000466.3(PEX1):c.3485C>G (p.Pro1162Arg) rs139869362 0.00001
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=) rs368014758 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3585A>G (p.Gln1195=) rs371622709 0.00001
NM_000466.3(PEX1):c.3594A>G (p.Ala1198=) rs1234805996 0.00001
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.3636+4T>C rs764752742 0.00001
NM_000466.3(PEX1):c.3637-19A>G rs367814599 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.3645A>G (p.Glu1215=) rs483352694 0.00001
NM_000466.3(PEX1):c.3665C>T (p.Pro1222Leu) rs371575516 0.00001
NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser) rs1173172739 0.00001
NM_000466.3(PEX1):c.3687T>C (p.Ile1229=) rs368274049 0.00001
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg) rs766682184 0.00001
NM_000466.3(PEX1):c.3710C>T (p.Ala1237Val) rs1473858573 0.00001
NM_000466.3(PEX1):c.3767+13T>C rs370369794 0.00001
NM_000466.3(PEX1):c.3767+16del rs781629883 0.00001
NM_000466.3(PEX1):c.3772G>A (p.Glu1258Lys) rs749050363 0.00001
NM_000466.3(PEX1):c.3801A>G (p.Lys1267=) rs375758017 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu) rs765142376 0.00001
NC_000007.14:g.(?_92489273)_(92491522_?)del
NM_000466.3(PEX1):c.*241T>C rs886062499
NM_000466.3(PEX1):c.2784-15G>A
NM_000466.3(PEX1):c.2784-15_2784-13del rs1432413300
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2784-5C>T
NM_000466.3(PEX1):c.2784-6T>C
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2784-9T>C
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
NM_000466.3(PEX1):c.2793T>C (p.Ala931=) rs2116095814
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2799G>A (p.Lys933=)
NM_000466.3(PEX1):c.2802C>G (p.Pro934=) rs2116095731
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer) rs1791555145
NM_000466.3(PEX1):c.2817T>C (p.Phe939=)
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.2820T>C (p.Asp940=) rs2116095539
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs) rs2116095487
NM_000466.3(PEX1):c.2823A>G (p.Glu941=) rs1585221444
NM_000466.3(PEX1):c.2826T>G (p.Phe942Leu) rs756877568
NM_000466.3(PEX1):c.2832C>T (p.Ser944=)
NM_000466.3(PEX1):c.2841T>C (p.Pro947=) rs2116095239
NM_000466.3(PEX1):c.2844G>T (p.Arg948=)
NM_000466.3(PEX1):c.2847G>T (p.Arg949=)
NM_000466.3(PEX1):c.2848G>T (p.Gly950Cys) rs1791552137
NM_000466.3(PEX1):c.2849dup (p.His951fs)
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2854_2856del (p.Asp952del) rs762236071
NM_000466.3(PEX1):c.2859T>C (p.Asn953=) rs1554368757
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
NM_000466.3(PEX1):c.2862A>G (p.Thr954=) rs774719262
NM_000466.3(PEX1):c.2862A>T (p.Thr954=)
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs) rs2116094537
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000466.3(PEX1):c.2879T>C (p.Val960Ala)
NM_000466.3(PEX1):c.2886C>T (p.Asn962=) rs2116094397
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
NM_000466.3(PEX1):c.2895G>A (p.Leu965=)
NM_000466.3(PEX1):c.2902T>C (p.Leu968=) rs933191144
NM_000466.3(PEX1):c.2910A>T (p.Gly970=)
NM_000466.3(PEX1):c.2912T>A (p.Val971Glu) rs745667444
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala) rs745667444
NM_000466.3(PEX1):c.2913A>T (p.Val971=) rs2116094067
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2919C>G (p.Gly973=)
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2926+11T>C
NM_000466.3(PEX1):c.2926+12A>G
NM_000466.3(PEX1):c.2926+13_2926+16del
NM_000466.3(PEX1):c.2926+1del rs1791544171
NM_000466.3(PEX1):c.2926+9T>C
NM_000466.3(PEX1):c.2927-10T>A rs2116092636
NM_000466.3(PEX1):c.2927-14_2927-12del
NM_000466.3(PEX1):c.2927-14_2927-13del rs765202366
NM_000466.3(PEX1):c.2927-17G>A
NM_000466.3(PEX1):c.2927-17G>C
NM_000466.3(PEX1):c.2927-18T>A
NM_000466.3(PEX1):c.2927-19dup
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2927-4C>G
NM_000466.3(PEX1):c.2927-4C>T rs1033915282
NM_000466.3(PEX1):c.2927-7C>A rs1585220765
NM_000466.3(PEX1):c.2927-9T>C
NM_000466.3(PEX1):c.2929G>A (p.Val977Ile)
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2943T>A (p.Ala981=)
NM_000466.3(PEX1):c.2949T>C (p.Thr983=)
NM_000466.3(PEX1):c.2951G>A (p.Ser984Asn)
NM_000466.3(PEX1):c.2967T>C (p.Ile989=)
NM_000466.3(PEX1):c.2973T>C (p.Pro991=)
NM_000466.3(PEX1):c.2977dup (p.Leu993fs) rs2116091859
NM_000466.3(PEX1):c.2979G>A (p.Leu993=) rs768697489
NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe) rs760620313
NM_000466.3(PEX1):c.2985G>A (p.Arg995=)
NM_000466.3(PEX1):c.2989G>C (p.Gly997Arg)
NM_000466.3(PEX1):c.2992C>A (p.Arg998=) rs61750428
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile) rs1791529840
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs) rs1562847911
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter) rs2116091512
NM_000466.3(PEX1):c.3014G>C (p.Cys1005Ser) rs1367395648
NM_000466.3(PEX1):c.3030+10T>A
NM_000466.3(PEX1):c.3030+12A>G rs1163936793
NM_000466.3(PEX1):c.3030+13T>C
NM_000466.3(PEX1):c.3030+15T>C
NM_000466.3(PEX1):c.3030+16T>G rs1442744769
NM_000466.3(PEX1):c.3031-16A>T
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3031-7C>T
NM_000466.3(PEX1):c.3031-9T>C rs113162185
NM_000466.3(PEX1):c.3031-9T>G rs113162185
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) rs1791439311
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
NM_000466.3(PEX1):c.3048T>C (p.Ile1016=)
NM_000466.3(PEX1):c.3053A>G (p.Asn1018Ser)
NM_000466.3(PEX1):c.3054T>C (p.Asn1018=)
NM_000466.3(PEX1):c.3057C>T (p.Val1019=) rs1276724578
NM_000466.3(PEX1):c.3060C>T (p.Leu1020=) rs2116079036
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn) rs1330798276
NM_000466.3(PEX1):c.3068C>T (p.Ser1023Phe) rs547203417
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
NM_000466.3(PEX1):c.3069T>C (p.Ser1023=)
NM_000466.3(PEX1):c.3070C>T (p.Leu1024=)
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs) rs1312351030
NM_000466.3(PEX1):c.3076C>T (p.Leu1026=)
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3080C>T (p.Ala1027Val)
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3111A>T (p.Ser1037=)
NM_000466.3(PEX1):c.3115A>G (p.Thr1039Ala)
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3117T>C (p.Thr1039=)
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.3120C>G (p.Asp1040Glu) rs2116078096
NM_000466.3(PEX1):c.3120C>T (p.Asp1040=) rs2116078096
NM_000466.3(PEX1):c.3122C>T (p.Ser1041Phe)
NM_000466.3(PEX1):c.3123C>T (p.Ser1041=)
NM_000466.3(PEX1):c.3129T>C (p.Thr1043=) rs374905629
NM_000466.3(PEX1):c.3129T>G (p.Thr1043=) rs374905629
NM_000466.3(PEX1):c.3132A>C (p.Gly1044=)
NM_000466.3(PEX1):c.3151C>T (p.Leu1051Phe)
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs) rs2116077430
NM_000466.3(PEX1):c.3153T>G (p.Leu1051=) rs2116077487
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs) rs2116077400
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr) rs1791428584
NM_000466.3(PEX1):c.3173C>G (p.Ala1058Gly)
NM_000466.3(PEX1):c.3174C>T (p.Ala1058=) rs2116077059
NM_000466.3(PEX1):c.3176T>C (p.Leu1059Ser)
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs) rs61750430
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg) rs1230486358
NM_000466.3(PEX1):c.3189G>T (p.Leu1063=) rs2116076833
NM_000466.3(PEX1):c.3194C>T (p.Ser1065Leu)
NM_000466.3(PEX1):c.3195G>C (p.Ser1065=)
NM_000466.3(PEX1):c.3195G>T (p.Ser1065=) rs768417678
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg) rs1791427153
NM_000466.3(PEX1):c.3204C>T (p.Leu1068=) rs775109675
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) rs1562846113
NM_000466.3(PEX1):c.3207+11T>C
NM_000466.3(PEX1):c.3207+14G>C
NM_000466.3(PEX1):c.3207+14G>T rs1456695265
NM_000466.3(PEX1):c.3207+1G>C rs267608181
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3207+8A>T
NM_000466.3(PEX1):c.3208-19G>A
NM_000466.3(PEX1):c.3208-9G>A rs1381356182
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) rs1164302223
NM_000466.3(PEX1):c.3228T>C (p.Asp1076=)
NM_000466.3(PEX1):c.3235C>T (p.Leu1079=) rs770075964
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3241C>T (p.Leu1081=)
NM_000466.3(PEX1):c.3242T>C (p.Leu1081Pro) rs2116060032
NM_000466.3(PEX1):c.3249A>G (p.Ser1083=)
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3258del (p.Asn1088fs) rs2116059954
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer) rs2116059937
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
NM_000466.3(PEX1):c.3267T>C (p.His1089=)
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
NM_000466.3(PEX1):c.3270C>T (p.Ser1090=)
NM_000466.3(PEX1):c.3271A>G (p.Ser1091Gly)
NM_000466.3(PEX1):c.3273T>C (p.Ser1091=) rs2116059800
NM_000466.3(PEX1):c.3280G>A (p.Asp1094Asn)
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter) rs2116059303
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
NM_000466.3(PEX1):c.3321C>T (p.Ser1107=)
NM_000466.3(PEX1):c.3324T>C (p.Leu1108=) rs2116058719
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3330T>C (p.Ser1110=) rs2116058613
NM_000466.3(PEX1):c.3330T>G (p.Ser1110=)
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3340T>A (p.Ser1114Thr)
NM_000466.3(PEX1):c.3341C>T (p.Ser1114Phe)
NM_000466.3(PEX1):c.3342C>T (p.Ser1114=) rs1248223186
NM_000466.3(PEX1):c.3351T>C (p.Leu1117=) rs2116058345
NM_000466.3(PEX1):c.3354A>C (p.Pro1118=)
NM_000466.3(PEX1):c.3360A>G (p.Glu1120=)
NM_000466.3(PEX1):c.3378C>T (p.Tyr1126=) rs61750431
NM_000466.3(PEX1):c.3379C>T (p.Arg1127Trp)
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000466.3(PEX1):c.3380G>A (p.Arg1127Gln)
NM_000466.3(PEX1):c.3384C>A (p.Leu1128=)
NM_000466.3(PEX1):c.3395G>A (p.Ser1132Asn) rs2116057948
NM_000466.3(PEX1):c.3396C>T (p.Ser1132=)
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
NM_000466.3(PEX1):c.3402T>C (p.Tyr1134=) rs758575707
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3420T>C (p.Asn1140=)
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
NM_000466.3(PEX1):c.3425C>A (p.Thr1142Asn)
NM_000466.3(PEX1):c.3426C>A (p.Thr1142=) rs143220470
NM_000466.3(PEX1):c.3426C>G (p.Thr1142=) rs143220470
NM_000466.3(PEX1):c.3436T>C (p.Leu1146=) rs1307285416
NM_000466.3(PEX1):c.3438+17T>A
NM_000466.3(PEX1):c.3438+1G>A rs1554367284
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3438+20T>C
NM_000466.3(PEX1):c.3438+7T>C rs2116057339
NM_000466.3(PEX1):c.3438+8G>A rs2116057302
NM_000466.3(PEX1):c.3438+9T>C rs2116057274
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=) rs1585214175
NM_000466.3(PEX1):c.3439-11T>C
NM_000466.3(PEX1):c.3439-15C>T
NM_000466.3(PEX1):c.3439-21_3439-16dup
NM_000466.3(PEX1):c.3439-2A>G
NM_000466.3(PEX1):c.3439-5T>C rs1483920015
NM_000466.3(PEX1):c.3439-5T>G
NM_000466.3(PEX1):c.3439-8C>T
NM_000466.3(PEX1):c.3444A>C (p.Ser1148=)
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
NM_000466.3(PEX1):c.3447A>G (p.Gln1149=) rs781059210
NM_000466.3(PEX1):c.3447A>T (p.Gln1149His) rs781059210
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter) rs1459743428
NM_000466.3(PEX1):c.3450T>C (p.Cys1150=) rs1459743428
NM_000466.3(PEX1):c.3453C>G (p.Leu1151=)
NM_000466.3(PEX1):c.3453C>T (p.Leu1151=)
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.3459A>C (p.Ala1153=) rs2116045162
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg) rs1791190751
NM_000466.3(PEX1):c.3489A>T (p.Gly1163=)
NM_000466.3(PEX1):c.3490G>A (p.Val1164Ile)
NM_000466.3(PEX1):c.3494C>T (p.Pro1165Leu)
NM_000466.3(PEX1):c.3501A>G (p.Lys1167=) rs2116044708
NM_000466.3(PEX1):c.3502G>A (p.Asp1168Asn)
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala) rs182452430
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs) rs727504076
NM_000466.3(PEX1):c.3513T>C (p.Phe1171=)
NM_000466.3(PEX1):c.3522T>G (p.Pro1174=) rs1791183949
NM_000466.3(PEX1):c.3525A>G (p.Pro1175=) rs1791183728
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.3549G>C (p.Glu1183Asp)
NM_000466.3(PEX1):c.3552T>C (p.Gly1184=) rs1246785455
NM_000466.3(PEX1):c.3567A>C (p.Thr1189=) rs2116043815
NM_000466.3(PEX1):c.3567A>G (p.Thr1189=)
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter) rs1281995042
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) rs2116043736
NM_000466.3(PEX1):c.3573del (p.Glu1191fs) rs1585211048
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.3582T>C (p.Asp1194=)
NM_000466.3(PEX1):c.3585A>T (p.Gln1195His)
NM_000466.3(PEX1):c.3588G>A (p.Leu1196=)
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn) rs1791175493
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu)
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile) rs574785174
NM_000466.3(PEX1):c.3618A>G (p.Arg1206=)
NM_000466.3(PEX1):c.3622C>T (p.Arg1208Trp)
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3632G>A (p.Ser1211Asn)
NM_000466.3(PEX1):c.3634G>C (p.Gly1212Arg)
NM_000466.3(PEX1):c.3636+12T>C
NM_000466.3(PEX1):c.3636+14C>T
NM_000466.3(PEX1):c.3636+17C>A
NM_000466.3(PEX1):c.3636+19C>T
NM_000466.3(PEX1):c.3636+20A>G
NM_000466.3(PEX1):c.3636+6G>C
NM_000466.3(PEX1):c.3636+7C>T rs761255965
NM_000466.3(PEX1):c.3637-15C>A
NM_000466.3(PEX1):c.3637-18T>C
NM_000466.3(PEX1):c.3637-19A>T
NM_000466.3(PEX1):c.3637-19del
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3637-6C>T rs2116039914
NM_000466.3(PEX1):c.3637-8T>A rs778635449
NM_000466.3(PEX1):c.3637-8T>C
NM_000466.3(PEX1):c.3637-8del rs775743560
NM_000466.3(PEX1):c.3637-8dup rs775743560
NM_000466.3(PEX1):c.3637-9T>C rs1251346880
NM_000466.3(PEX1):c.3637-9T>G
NM_000466.3(PEX1):c.3639G>A (p.Glu1213=) rs756953510
NM_000466.3(PEX1):c.3678A>G (p.Arg1226=)
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3696A>G (p.Ser1232=) rs2116039237
NM_000466.3(PEX1):c.3697C>T (p.His1233Tyr)
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile) rs1791136903
NM_000466.3(PEX1):c.3723A>G (p.Thr1241=) rs1048574377
NM_000466.3(PEX1):c.3726A>G (p.Arg1242=) rs1585209870
NM_000466.3(PEX1):c.3732C>G (p.Ser1244=) rs2116038940
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3735T>C (p.Ile1245=)
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596
NM_000466.3(PEX1):c.3767+11G>A
NM_000466.3(PEX1):c.3767+12A>T
NM_000466.3(PEX1):c.3767+15_3767+16del
NM_000466.3(PEX1):c.3767+16T>C
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3767+2T>C
NM_000466.3(PEX1):c.3767+9C>T
NM_000466.3(PEX1):c.3768-10C>A
NM_000466.3(PEX1):c.3768-10_3768-7del
NM_000466.3(PEX1):c.3768-11T>C rs1585206248
NM_000466.3(PEX1):c.3768-12_3768-11del
NM_000466.3(PEX1):c.3768-14_3768-13del
NM_000466.3(PEX1):c.3768-16C>A
NM_000466.3(PEX1):c.3768-17T>A
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-20T>A
NM_000466.3(PEX1):c.3768-22_3768-18del
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3768-4dup rs1459472276
NM_000466.3(PEX1):c.3771T>C (p.Tyr1257=) rs2116022961
NM_000466.3(PEX1):c.3774A>G (p.Glu1258=)
NM_000466.3(PEX1):c.3776G>C (p.Ser1259Thr)
NM_000466.3(PEX1):c.3781C>A (p.Gln1261Lys) rs2116022906
NM_000466.3(PEX1):c.3783A>G (p.Gln1261=) rs1790992143
NM_000466.3(PEX1):c.3788C>A (p.Pro1263Gln)
NM_000466.3(PEX1):c.3788C>G (p.Pro1263Arg)
NM_000466.3(PEX1):c.3792G>A (p.Lys1264=) rs2116022815
NM_000466.3(PEX1):c.3803dup (p.Asn1268fs) rs1293931061
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.3808A>C (p.Ser1270Arg)
NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)
NM_000466.3(PEX1):c.3828T>A (p.Pro1276=)
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.3840A>G (p.Val1280=) rs2116022170
NM_000466.3(PEX1):c.3846A>G (p.Leu1282=) rs2116022091
NM_000466.3(PEX1):c.3851A>G (p.Ter1284=) rs957039229

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