ClinVar Miner

List of variants in gene AGL reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
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.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1082+1G>C rs751112302 0.00001
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro) rs1275707003 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 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.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter) rs971749992 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NC_000001.10:g.(?_100335936)_(100336445_?)del
NC_000001.10:g.100330092T>A rs794729208
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NM_000642.2(AGL):c.84delG rs1553183148
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter) rs1651358664
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1091del (p.Pro364fs)
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter) rs1651407980
NM_000642.3(AGL):c.1113dup (p.Asn372Ter)
NM_000642.3(AGL):c.1115del (p.Asn372fs)
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
NM_000642.3(AGL):c.1185+1G>A rs1057516948
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.121G>T (p.Gly41Ter) rs1553183178
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.1283+2T>C
NM_000642.3(AGL):c.1284-1G>A
NM_000642.3(AGL):c.1284-2A>G rs1651536973
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1400del (p.Pro467fs) rs1057516913
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter) rs1651556356
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
NM_000642.3(AGL):c.1494del (p.Lys498fs)
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
NM_000642.3(AGL):c.1611+2T>G
NM_000642.3(AGL):c.1612-1G>A rs1327892944
NM_000642.3(AGL):c.1612-1G>C rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
NM_000642.3(AGL):c.1640_1641insGCTGG (p.Pro548fs)
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) rs1651872905
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) rs1651881949
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1736-11A>G rs2101148246
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
NM_000642.3(AGL):c.1858dup (p.Leu620fs)
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)
NM_000642.3(AGL):c.1883dup (p.Asn628fs)
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter) rs1651951474
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.1998del (p.Gln667fs)
NM_000642.3(AGL):c.2001+1G>T
NM_000642.3(AGL):c.2001+2T>C rs1057516708
NM_000642.3(AGL):c.2002-1G>C rs2100759240
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2011del (p.Val671fs)
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2034del (p.Lys679fs)
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.2062_2065del (p.Asn688fs)
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) rs1553186577
NM_000642.3(AGL):c.2123_2124insA (p.His709fs)
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.2158-1G>T
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2196_2197delinsGTAT (p.Thr733fs)
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
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.2277C>A (p.Tyr759Ter)
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.2308+2T>A
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2399dup (p.Asp801fs) rs1652268068
NM_000642.3(AGL):c.2433+1G>A rs2100768428
NM_000642.3(AGL):c.2434-1G>T rs2100768726
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2465del (p.Gly822fs)
NM_000642.3(AGL):c.2480_2481insA (p.Pro828fs)
NM_000642.3(AGL):c.2516dup (p.Asn839fs)
NM_000642.3(AGL):c.2525del (p.Pro842fs) rs1057517425
NM_000642.3(AGL):c.2530dup (p.Ser844fs)
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter) rs1652306026
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2682-2A>G rs1185321132
NM_000642.3(AGL):c.2685_2686del (p.Ala896fs)
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)
NM_000642.3(AGL):c.2724_2725del (p.Tyr909fs)
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter) rs1652583223
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2810_2812+21del
NM_000642.3(AGL):c.2812+1G>C
NM_000642.3(AGL):c.2869del (p.Cys957fs)
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.2895G>A (p.Trp965Ter) rs2100788592
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) rs1553188559
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2949+2T>A rs750492389
NM_000642.3(AGL):c.2949+2T>C rs750492389
NM_000642.3(AGL):c.2949+5G>A rs1652885754
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.2950-2A>C rs770438130
NM_000642.3(AGL):c.296del (p.Asn99fs)
NM_000642.3(AGL):c.2977_2982del (p.Phe993_Tyr994del) rs1064795630
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3054_3083+34del
NM_000642.3(AGL):c.3083+1G>A rs2100790188
NM_000642.3(AGL):c.3083+1G>T
NM_000642.3(AGL):c.3083+2T>C rs1057516952
NM_000642.3(AGL):c.3084-1G>A
NM_000642.3(AGL):c.3090_3091del (p.Gln1031fs)
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3100_3101del (p.Ser1034fs)
NM_000642.3(AGL):c.3178del (p.Ser1060fs)
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3221_3222del (p.Thr1074fs)
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
NM_000642.3(AGL):c.3259+1G>C
NM_000642.3(AGL):c.3260-2A>T rs775904482
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys) rs1653326843
NM_000642.3(AGL):c.3363-1G>A rs1057516513
NM_000642.3(AGL):c.337_338del (p.Leu113fs)
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter) rs267606639
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter) rs763652784
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3498_3499del (p.Lys1166fs)
NM_000642.3(AGL):c.3538del (p.Ser1180fs) rs1553190316
NM_000642.3(AGL):c.3588_3588+14del
NM_000642.3(AGL):c.3588_3588+2del
NM_000642.3(AGL):c.3589-1G>A rs1289339080
NM_000642.3(AGL):c.3589-3C>G rs1653935585
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3630del (p.Lys1210fs) rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
NM_000642.3(AGL):c.3700+1G>A rs2100825216
NM_000642.3(AGL):c.3700+2T>C
NM_000642.3(AGL):c.3701-2A>G
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter) rs1654687449
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
NM_000642.3(AGL):c.3771del (p.Thr1258fs)
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs) rs2100849229
NM_000642.3(AGL):c.3787del (p.Met1263fs)
NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter) rs1654695322
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter) rs1654701324
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter) rs1654817532
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter) rs1654818141
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3941_3949+12del rs1553192718
NM_000642.3(AGL):c.3949+1G>C
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
NM_000642.3(AGL):c.3G>C (p.Met1Ile) rs1553181400
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)
NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000642.3(AGL):c.4162-1G>A rs1490339052
NM_000642.3(AGL):c.4162-2A>T
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs) rs1057517405
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
NM_000642.3(AGL):c.4255_4259+150del
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4260-1G>A
NM_000642.3(AGL):c.4260-2A>C
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter) rs1655117886
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4347+1G>T rs1553193463
NM_000642.3(AGL):c.4348-2A>T rs1353062665
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.442del (p.Arg148fs) rs1057516397
NM_000642.3(AGL):c.4481+1G>C rs1553193529
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) rs1064795728
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
NM_000642.3(AGL):c.458C>A (p.Ser153Ter) rs1650126015
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr) rs1655521504
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
NM_000642.3(AGL):c.516C>A (p.Cys172Ter) rs1650330685
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
NM_000642.3(AGL):c.567dup (p.Arg190Ter) rs1650334882
NM_000642.3(AGL):c.604del (p.Glu202fs)
NM_000642.3(AGL):c.615_616insTTCCT (p.Lys206fs)
NM_000642.3(AGL):c.619del (p.Glu207fs)
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.659A>G (p.His220Arg) rs1557749651
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.664+1G>C rs61811105
NM_000642.3(AGL):c.664+2T>C rs1650347038
NM_000642.3(AGL):c.665-2A>G
NM_000642.3(AGL):c.667del (p.Ala223fs)
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.680G>A (p.Trp227Ter) rs145929061
NM_000642.3(AGL):c.681G>A (p.Trp227Ter) rs753914653
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.3(AGL):c.809dup (p.Ile271fs)
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.82+1G>C
NM_000642.3(AGL):c.82+1G>T
NM_000642.3(AGL):c.82+2T>G
NM_000642.3(AGL):c.83-2A>G
NM_000642.3(AGL):c.842_846+29del
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.867G>A (p.Trp289Ter) rs1650926061
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
NM_000642.3(AGL):c.947_948del (p.Leu316fs) rs1650934988
NM_000642.3(AGL):c.958+1G>C
NM_000642.3(AGL):c.959-61_965dup rs1553185268
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000642.3(AGL):c.991C>T (p.Gln331Ter) rs1651353836

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