ClinVar Miner

List of variants in gene AGL reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.664+150T>C rs539157 0.76296
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_000642.3(AGL):c.82+85C>T rs663848 0.76243
NM_000642.3(AGL):c.460+293G>A rs687979 0.76236
NM_000642.3(AGL):c.664+92A>G rs538389 0.75534
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_000642.3(AGL):c.461-53G>C rs535461 0.72299
NM_000642.3(AGL):c.3259+288G>A rs515957 0.67524
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.2681+124G>A rs2234707 0.51021
NM_000642.3(AGL):c.1423+74C>T rs3736295 0.51012
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51012
NM_000642.3(AGL):c.2950-121A>G rs2035960 0.50971
NM_000642.3(AGL):c.3259+224_3259+228dup rs10628111 0.50840
NM_000642.3(AGL):c.1424-124T>A rs2291637 0.48276
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.3836+53T>A rs1541041 0.46492
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000642.3(AGL):c.3700+290A>G rs17121609 0.39978
NM_000642.3(AGL):c.4260-97G>A rs2296885 0.38982
NM_000642.3(AGL):c.3949+294A>T rs6692695 0.38955
NM_000642.3(AGL):c.665-73A>G rs903126 0.37617
NM_000642.3(AGL):c.4259+262T>C rs7555316 0.37598
NM_000642.3(AGL):c.2309-295A>C rs17409324 0.36899
NM_000642.3(AGL):c.*272G>T rs1804808 0.31955
NM_000642.3(AGL):c.293+212C>A rs3766592 0.31940
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.665-168A>G rs67875069 0.24069
NM_000642.3(AGL):c.3837-172C>T rs3818568 0.13741
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000642.3(AGL):c.3362+236G>A rs4908034 0.13674
NM_000642.3(AGL):c.2308+216C>A rs1389381 0.13651
NM_000642.3(AGL):c.461-279A>C rs61434101 0.11285
NM_000642.3(AGL):c.3589-348G>A rs659030 0.06609
NM_000642.3(AGL):c.1736-213C>T rs12035706 0.05861
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.3837-217T>C rs17121622 0.05331
NM_000642.3(AGL):c.461-271A>G rs11166361 0.04404
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000642.3(AGL):c.461-117G>T rs534662 0.03294
NM_000642.3(AGL):c.4481+245G>C rs114982938 0.03092
NM_000642.3(AGL):c.958+200C>T rs79253638 0.02949
NM_000642.3(AGL):c.2813-110C>T rs12086095 0.02346
NM_000642.3(AGL):c.3363-51A>G rs572231 0.01985
NM_000642.3(AGL):c.3588+36T>G rs548255 0.01966
NM_000642.3(AGL):c.1083-162A>G rs77858980 0.01951
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000642.3(AGL):c.3363-344T>C rs17121583 0.01892
NM_000642.3(AGL):c.4481+307A>G rs138023651 0.01788
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000642.3(AGL):c.294-122T>C rs3766593 0.01684
NM_000642.3(AGL):c.959-170A>G rs79132413 0.01681
NM_000642.3(AGL):c.4482-274A>G rs141576159 0.01645
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.664+52C>T rs149552795 0.01525
NM_000642.3(AGL):c.83-93C>G rs41285736 0.01525
NM_000642.3(AGL):c.460+81T>G rs114575037 0.01524
NM_000642.3(AGL):c.83-386A>G rs146291089 0.01523
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.3083+307T>A rs79691966 0.01460
NM_000642.3(AGL):c.2813-289C>G rs76784737 0.01457
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_000642.3(AGL):c.2681+58C>T rs28730703 0.01361
NM_000642.3(AGL):c.1082+88G>A rs142990156 0.01325
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.3363-343G>A rs12734255 0.01279
NM_000642.3(AGL):c.1612-24C>A rs115666491 0.01263
NM_000642.3(AGL):c.4162-89T>A rs28730707 0.01226
NM_000642.3(AGL):c.3701-211T>C rs11166374 0.01219
NM_000642.3(AGL):c.3700+236G>A rs112278239 0.01147
NM_000642.3(AGL):c.3701-65A>C rs72970917 0.01118
NM_000642.3(AGL):c.2308+172T>C rs76321904 0.00979
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000642.3(AGL):c.1082+76_1082+78del rs113437474 0.00923
NM_000642.3(AGL):c.3949+62G>A rs79794510 0.00815
NM_000642.3(AGL):c.1083-120G>C rs114767209 0.00807
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000642.3(AGL):c.4482-229T>C rs12141927 0.00772
NM_000642.3(AGL):c.2812+96A>G rs145604857 0.00756
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000642.3(AGL):c.1423+124G>T rs489681 0.00729
NM_000642.3(AGL):c.3083+52A>G rs590623 0.00727
NM_000642.3(AGL):c.2813-103A>C rs685108 0.00699
NM_000642.3(AGL):c.3260-264A>G rs151199832 0.00677
NM_000642.3(AGL):c.82+276T>C rs140914380 0.00623
NM_000642.3(AGL):c.82+1354T>A rs146547795 0.00607
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.3362+249T>C rs112267398 0.00484
NM_000642.3(AGL):c.2813-177T>C rs115023183 0.00461
NM_000642.3(AGL):c.2682-39A>T rs78318902 0.00459
NM_000642.3(AGL):c.2813-23A>G rs76758694 0.00459
NM_000642.3(AGL):c.4162-123T>A rs75708138 0.00417
NM_000642.3(AGL):c.1424-164T>A rs142107235 0.00404
NM_000642.3(AGL):c.2813-126G>A rs143427634 0.00404
NM_000642.3(AGL):c.3259+26A>G rs12073608 0.00399
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_000642.3(AGL):c.3701-77G>A rs545103312 0.00379
NM_000642.3(AGL):c.2002-55A>T rs74855268 0.00377
NM_000642.3(AGL):c.3701-159G>A rs115302979 0.00377
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_000642.3(AGL):c.3362+22T>A rs79435569 0.00373
NM_000642.3(AGL):c.3950-238A>G rs79222466 0.00336
NM_000642.3(AGL):c.3083+84C>A rs377410347 0.00333
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_000642.3(AGL):c.1284-325C>T rs139450793 0.00327
NM_000642.3(AGL):c.665-43A>G rs150182025 0.00327
NM_000642.3(AGL):c.83-353G>C rs148506168 0.00323
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.3259+49G>A rs180688996 0.00198
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
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.3588+29G>T rs201885902 0.00134
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.1759C>T (p.His587Tyr) rs139488862 0.00053
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.39C>T (p.Asn13=) rs138203039 0.00045
NM_000642.3(AGL):c.3589-19C>T rs368244330 0.00034
NM_000642.3(AGL):c.83-34A>G rs200998407 0.00030
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.1895T>C (p.Ile632Thr) rs138823746 0.00016
NM_000642.3(AGL):c.3700+14A>G rs368141566 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.2657C>T (p.Pro886Leu) rs149331873 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.4462C>T (p.His1488Tyr) rs374651629 0.00011
NM_000642.3(AGL):c.1284-4A>G rs372612377 0.00010
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729 0.00009
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_000642.3(AGL):c.-76C>G rs888498974 0.00007
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832 0.00007
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706 0.00006
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089 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.261A>G (p.Gln87=) rs370304606 0.00005
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) rs147586981 0.00004
NM_000642.3(AGL):c.-69+11G>C rs1057523356 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 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.3532C>T (p.Pro1178Ser) rs769812980 0.00003
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00003
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.3653G>A (p.Arg1218Gln) rs772774189 0.00002
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) rs752519483 0.00002
NM_000642.3(AGL):c.959-15T>C rs1159446395 0.00002
NM_000642.3(AGL):c.1062A>G (p.Leu354=) rs1165052196 0.00001
NM_000642.3(AGL):c.1082+4T>A rs781204563 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1388T>A (p.Met463Lys) rs775358277 0.00001
NM_000642.3(AGL):c.1612-10C>G rs1057524368 0.00001
NM_000642.3(AGL):c.2337T>C (p.Ala779=) rs928189171 0.00001
NM_000642.3(AGL):c.2571A>G (p.Gln857=) rs373619867 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.366A>G (p.Leu122=) rs1386596170 0.00001
NM_000642.3(AGL):c.3741T>C (p.Phe1247=) rs1279212438 0.00001
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) rs772026557 0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1324G>C (p.Glu442Gln)
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1612-236TTC[2] rs367874912
NM_000642.3(AGL):c.1612-338AATA[7] rs199927371
NM_000642.3(AGL):c.1612-70C>G rs2392077
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
NM_000642.3(AGL):c.1996_1999delinsT (p.His666_Gln667delinsTer) rs886042008
NM_000642.3(AGL):c.2001+8_2001+9delinsCT rs1064794512
NM_000642.3(AGL):c.2158-18_2158-16del rs770934299
NM_000642.3(AGL):c.2308+16A>G rs1553186633
NM_000642.3(AGL):c.2434-19del rs1553187226
NM_000642.3(AGL):c.2522C>A (p.Ser841Tyr) rs150441555
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2977_2982del (p.Phe993_Tyr994del) rs1064795630
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3308C>T (p.Thr1103Ile)
NM_000642.3(AGL):c.3588+43_3588+44del rs35956186
NM_000642.3(AGL):c.3588+44dup rs35956186
NM_000642.3(AGL):c.3701-5T>G rs1057523410
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) rs1057521342
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4259+135del rs368705786
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4259+79_4259+80dup rs11438303
NM_000642.3(AGL):c.4259+80dup rs11438303
NM_000642.3(AGL):c.4260-151G>T rs6665958
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4482-18G>A rs1057521645
NM_000642.3(AGL):c.4482-19T>C rs370127763
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) rs1064795728
NM_000642.3(AGL):c.665-196del rs530402620
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.82+1247_82+1248del rs11363065
NM_000642.3(AGL):c.82+1248del rs11363065
NM_000642.3(AGL):c.82+1432dup rs58176899
NM_000642.3(AGL):c.847-20dup rs771807071
NM_000642.3(AGL):c.895T>G (p.Trp299Gly) rs773101055
NM_000642.3(AGL):c.954A>G (p.Thr318=) rs1057523817
NM_000642.3(AGL):c.959-19_959-18insATCTTTTCTTTCTTTTA rs761998241
NM_000642.3(AGL):c.959-300T>C rs58794035
NM_000642.3(AGL):c.959-53A>T rs184400307
NM_000642.3(AGL):c.959-61_959-60insTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG rs1064794576

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