ClinVar Miner

List of variants in gene AGL reported by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 368
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_000642.3(AGL):c.3259+37G>A rs594249 0.65860
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51012
NM_000642.3(AGL):c.2950-21T>A rs2035961 0.48240
NM_000642.3(AGL):c.3836+45G>A rs2274570 0.46505
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000642.3(AGL):c.*272G>T rs1804808 0.31955
NM_000642.3(AGL):c.1424-44A>G rs2291638 0.29229
NM_000642.3(AGL):c.83-33C>T rs2307129 0.24077
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05399
NM_000642.3(AGL):c.3700+32T>C rs834575 0.05338
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000642.3(AGL):c.3588+36T>G rs548255 0.01966
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252 0.01465
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_000642.3(AGL):c.1612-24C>A rs115666491 0.01263
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_000642.3(AGL):c.*832G>A rs181486858 0.00261
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_000642.2(AGL):c.-208C>T rs563389574 0.00192
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718 0.00159
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237 0.00151
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_000642.3(AGL):c.2949+20C>T rs201729914 0.00114
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00110
NM_000642.3(AGL):c.*604A>G rs189939228 0.00106
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000642.2(AGL):c.-134C>G rs548243205 0.00057
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000642.3(AGL):c.*595A>G rs763929813 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_000642.3(AGL):c.3822C>T (p.Ile1274=) rs143885684 0.00049
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_000642.3(AGL):c.*564T>C rs552782825 0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763 0.00039
NM_000642.3(AGL):c.2088C>T (p.Ser696=) rs144491501 0.00034
NM_000642.3(AGL):c.3589-19C>T rs368244330 0.00034
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648 0.00026
NM_000642.3(AGL):c.2219A>G (p.His740Arg) rs562215810 0.00025
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) rs200459772 0.00022
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00019
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_000642.3(AGL):c.3700+14A>G rs368141566 0.00016
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr) rs374651629 0.00011
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00010
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00010
NM_000642.3(AGL):c.1284-4A>G rs372612377 0.00010
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543 0.00010
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337 0.00009
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729 0.00009
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630 0.00009
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157 0.00009
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000642.3(AGL):c.1423+3A>G rs766117687 0.00008
NM_000642.3(AGL):c.3116A>T (p.His1039Leu) rs1430797073 0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832 0.00007
NM_000642.3(AGL):c.846+8T>A rs372517543 0.00007
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00006
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706 0.00006
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser) rs909008103 0.00006
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312 0.00006
NM_000642.3(AGL):c.188G>A (p.Arg63His) rs199958942 0.00006
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969 0.00006
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002 0.00006
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040 0.00006
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.293+3A>G rs375459662 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_000642.3(AGL):c.847-7T>A rs750785301 0.00006
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg) rs752502818 0.00005
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000642.3(AGL):c.1049T>C (p.Met350Thr) rs761122742 0.00004
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe) rs140002583 0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378 0.00004
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) rs147586981 0.00004
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404 0.00004
NM_000642.3(AGL):c.3258A>T (p.Ala1086=) rs779468425 0.00004
NM_000642.3(AGL):c.325G>T (p.Val109Leu) rs369068676 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000642.3(AGL):c.1042G>A (p.Val348Ile) rs544658310 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) rs752153469 0.00003
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.2814T>G (p.Gly938=) rs147590282 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) rs773625464 0.00003
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val) rs867496787 0.00003
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr) rs749118487 0.00003
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00003
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys) rs886042149 0.00003
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) rs747879201 0.00002
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile) rs897697440 0.00002
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905 0.00002
NM_000642.3(AGL):c.1900-6T>C rs749096703 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.2682-7T>C rs375256646 0.00002
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084 0.00002
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly) rs1245795149 0.00002
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg) rs769337147 0.00002
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) rs768133891 0.00002
NM_000642.3(AGL):c.3362+9G>A rs747485058 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln) rs772774189 0.00002
NM_000642.3(AGL):c.3836+3A>G rs372921189 0.00002
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) rs752519483 0.00002
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917 0.00002
NM_000642.3(AGL):c.959-15T>C rs1159446395 0.00002
NM_000642.3(AGL):c.966G>A (p.Arg322=) rs199905460 0.00002
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1082+4T>A rs781204563 0.00001
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys) rs775949246 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822 0.00001
NM_000642.3(AGL):c.1255G>A (p.Val419Ile) rs1236981513 0.00001
NM_000642.3(AGL):c.1388T>A (p.Met463Lys) rs775358277 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.187C>T (p.Arg63Cys) rs778524671 0.00001
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843 0.00001
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) rs773274876 0.00001
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129 0.00001
NM_000642.3(AGL):c.2001+3T>G rs1392738838 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys) rs756760991 0.00001
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys) rs780205320 0.00001
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr) rs776037609 0.00001
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile) rs1652034728 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.2337T>C (p.Ala779=) rs928189171 0.00001
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser) rs145720433 0.00001
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902 0.00001
NM_000642.3(AGL):c.2571A>G (p.Gln857=) rs373619867 0.00001
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2905T>C (p.Tyr969His) rs1336583652 0.00001
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys) rs749163043 0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.367C>G (p.Pro123Ala) rs372709840 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.3741T>C (p.Phe1247=) rs1279212438 0.00001
NM_000642.3(AGL):c.3836+4G>A rs1488570554 0.00001
NM_000642.3(AGL):c.413G>A (p.Gly138Glu) rs773384152 0.00001
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val) rs752877022 0.00001
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) rs772026557 0.00001
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser) rs766592371 0.00001
NM_000642.3(AGL):c.4379G>A (p.Arg1460His) rs546855663 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.818C>G (p.Ala273Gly) rs943273443 0.00001
NM_000642.3(AGL):c.83-17_83-16del rs751326594 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000642.3(AGL):c.996C>A (p.His332Gln) rs780811320 0.00001
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly) rs1216156102
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1054A>G (p.Ile352Val) rs1651360894
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro) rs750705888
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu) rs928357712
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly) rs1045745115
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln) rs758882822
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr) rs149771710
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) rs146493448
NM_000642.3(AGL):c.1423+1G>C rs751952198
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1459T>C (p.Trp487Arg) rs1557760604
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.1735+5G>A
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr) rs1317587334
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) rs781127120
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
NM_000642.3(AGL):c.2001+8_2001+9delinsCT rs1064794512
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2158-18_2158-16del rs770934299
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu) rs2100760670
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2565T>C (p.His855=) rs1312742910
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg) rs1010866326
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.2896A>T (p.Met966Leu) rs772843306
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu) rs147977213
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.2996del (p.Pro999fs) rs1652909202
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu) rs569268763
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3260-14_3260-10dup rs1653309500
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3347G>A (p.Arg1116His) rs746779518
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu) rs775498547
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3639G>C (p.Gln1213His) rs1213904866
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg) rs749118487
NM_000642.3(AGL):c.3701-5T>G rs1057523410
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs) rs2100849229
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val) rs765807203
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3927T>A (p.His1309Gln) rs1200885928
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly) rs757161555
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met) rs897156043
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) rs1057521342
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000642.3(AGL):c.4161+11C>G rs886038361
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
NM_000642.3(AGL):c.4290T>C (p.Asn1430=) rs886038362
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter) rs1655136943
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
NM_000642.3(AGL):c.4482-18G>A rs1057521645
NM_000642.3(AGL):c.4482-19T>C rs370127763
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.573G>C (p.Lys191Asn) rs781491884
NM_000642.3(AGL):c.613A>T (p.Lys205Ter) rs562042076
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.891dup (p.Leu298fs) rs775335476
NM_000642.3(AGL):c.895T>G (p.Trp299Gly) rs773101055
NM_000642.3(AGL):c.922A>G (p.Lys308Glu) rs2101113540
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000642.3(AGL):c.974C>G (p.Thr325Ser) rs2101126080

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.