ClinVar Miner

List of variants in gene AGL reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 282
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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.4525C>T (p.Gln1509Ter) rs1480850606 0.00007
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 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.3965del (p.Val1322fs) rs113994132 0.00004
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter) rs1188310172 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 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.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 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.1900-2A>G rs1254391875 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.2520_2524dup (p.Pro842fs) rs759727721 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.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3014del (p.Cys1005fs) rs754653701 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.3976del (p.Glu1326fs) rs1654902207 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 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.685C>T (p.Gln229Ter) rs971749992 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.94C>T (p.Gln32Ter) rs786204489 0.00001
NC_000001.10:g.(?_100316599)_(100316700_?)del
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100366182)_(100368360_?)del
NC_000001.10:g.(?_100366308)_(100367832_?)del
NC_000001.10:g.(?_100368229)_(100368360_?)del
NC_000001.10:g.(?_100380935)_(100382063_?)del
NC_000001.11:g.(?_99892422)_(99892617_?)del
NC_000001.11:g.(?_99902663)_(99902814_?)del
NC_000001.11:g.(?_99910692)_(99910867_?)del
NC_000001.11:g.(?_99910692)_(99913758_?)del
NC_000001.11:g.99891220del rs2100788198
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
NM_000642.3(AGL):c.1017del (p.Glu340fs)
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1102del (p.Glu368fs) rs1553185403
NM_000642.3(AGL):c.1107del (p.Glu369fs)
NM_000642.3(AGL):c.1142_1150del (p.Leu381_Glu384delinsTer)
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.1175del (p.His392fs) rs2101128055
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter) rs1570433686
NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs) rs1553185474
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1253dup (p.Val419fs)
NM_000642.3(AGL):c.1258_1265del (p.Thr420fs)
NM_000642.3(AGL):c.133dup (p.Thr45fs)
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs) rs1651548991
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.1413_1416del (p.Phe471fs)
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.1468_1469del (p.Ser490fs)
NM_000642.3(AGL):c.148dup (p.Tyr50fs)
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs) rs1204840140
NM_000642.3(AGL):c.1497del (p.Glu500fs)
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs) rs2101136443
NM_000642.3(AGL):c.1513dup (p.Leu505fs)
NM_000642.3(AGL):c.1533dup (p.Tyr512fs) rs776733170
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer) rs2101136597
NM_000642.3(AGL):c.1565del (p.Gly522fs) rs1570438459
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.158del (p.Pro53fs) rs1650040391
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter) rs2101145154
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) rs1651872905
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.168_169del (p.Thr56_Phe57insTer)
NM_000642.3(AGL):c.1692del (p.Asp564fs) rs1651877300
NM_000642.3(AGL):c.1700_1701del (p.Phe567fs)
NM_000642.3(AGL):c.1717dup (p.Ile573fs) rs1651880905
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) rs1651881949
NM_000642.3(AGL):c.1735+1_1735+15del rs1651883514
NM_000642.3(AGL):c.175del (p.Arg59fs) rs2101084835
NM_000642.3(AGL):c.1830del (p.Arg610fs) rs2101148971
NM_000642.3(AGL):c.1858_1859del (p.Leu620fs)
NM_000642.3(AGL):c.1866_1869dup (p.Ile624fs) rs2101149228
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)
NM_000642.3(AGL):c.2001+5G>A rs1553186489
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.206dup (p.Asn69fs)
NM_000642.3(AGL):c.2094_2127del (p.Ile699fs) rs2100759667
NM_000642.3(AGL):c.2144del (p.Lys715fs) rs1652017784
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2151del (p.Phe717fs)
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2157+1G>T
NM_000642.3(AGL):c.2167_2179del (p.Asp723fs)
NM_000642.3(AGL):c.2204_2205del (p.His735fs)
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.2346del (p.Ile782fs) rs2100768023
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2353_2354del (p.Asn785fs)
NM_000642.3(AGL):c.2362_2392dup (p.Gly798delinsAlaLeuTer)
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter) rs1206517501
NM_000642.3(AGL):c.2397dup (p.Pro800fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)
NM_000642.3(AGL):c.2494dup (p.Ile832fs) rs2100768945
NM_000642.3(AGL):c.2500del (p.Glu834fs)
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2546+1G>A
NM_000642.3(AGL):c.2578del (p.Val860fs)
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2681+2T>G
NM_000642.3(AGL):c.2682-8A>G
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter) rs1239498701
NM_000642.3(AGL):c.2793del (p.Lys932fs) rs2100779184
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2823dup (p.Val942fs) rs1652870529
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.2936del (p.Gly979fs)
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter) rs1652906180
NM_000642.3(AGL):c.2963del (p.Leu988fs) rs1313973421
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3033_3036del (p.Ile1012fs)
NM_000642.3(AGL):c.3049dup (p.Thr1017fs) rs1557772907
NM_000642.3(AGL):c.3088del (p.Val1030fs)
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3110_3111dup (p.Lys1038Ter)
NM_000642.3(AGL):c.3133_3137del (p.Val1045fs)
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000642.3(AGL):c.3192_3197delinsTTCACCTA (p.Met1064fs)
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer) rs1553188832
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3225del (p.Glu1076fs)
NM_000642.3(AGL):c.3227_3231del (p.Glu1076fs)
NM_000642.3(AGL):c.3229_3230del (p.Lys1077fs) rs1557773719
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.328del (p.Asp110fs) rs2101087046
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
NM_000642.3(AGL):c.3317_3321del (p.Ala1106fs)
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter) rs2100817917
NM_000642.3(AGL):c.3434_3435del (p.Tyr1145fs)
NM_000642.3(AGL):c.3441del (p.Arg1147fs) rs1653759340
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3458del (p.Ala1153fs) rs2100818312
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter) rs762547610
NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)
NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter) rs2100818414
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs) rs770701389
NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)
NM_000642.3(AGL):c.3588+1G>A
NM_000642.3(AGL):c.3589-3C>G rs1653935585
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.3697G>T (p.Glu1233Ter) rs375254875
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
NM_000642.3(AGL):c.3707_3714dup (p.Ala1239delinsIleTer) rs752425529
NM_000642.3(AGL):c.3747dup (p.Gly1250fs) rs1654690647
NM_000642.3(AGL):c.3756dup (p.Arg1253fs) rs2100849117
NM_000642.3(AGL):c.3777_3778delinsAC (p.Trp1259_Met1260delinsTer) rs2100849251
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) rs1553183359
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.382dup (p.Thr128fs)
NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)
NM_000642.3(AGL):c.388C>T (p.Gln130Ter)
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter) rs2100854670
NM_000642.3(AGL):c.4024del (p.Ser1342fs)
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter) rs112795811
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter) rs1654908371
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter) rs1654912428
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.410_413del (p.Leu137fs) rs2101087361
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter) rs1183383313
NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)
NM_000642.3(AGL):c.4161+5G>A
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4176dup (p.Thr1393fs)
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter) rs1344484845
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.420del (p.Phe140fs) rs1406033695
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs) rs2100869173
NM_000642.3(AGL):c.4260-1G>T
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs) rs1655117230
NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)
NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter) rs760889909
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4347+1G>C rs1553193463
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter) rs1557794036
NM_000642.3(AGL):c.4353del (p.Trp1451fs)
NM_000642.3(AGL):c.436dup (p.Arg146fs)
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs) rs1557794150
NM_000642.3(AGL):c.440_441del (p.Leu147fs)
NM_000642.3(AGL):c.4419dup (p.Thr1474fs) rs2100876312
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4500del (p.Pro1501fs)
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) rs1064795728
NM_000642.3(AGL):c.4525del (p.Gln1509fs)
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.525del (p.Ala176fs) rs1571232214
NM_000642.3(AGL):c.530dup (p.Asn177fs)
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.55del (p.Glu19fs) rs1418531169
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
NM_000642.3(AGL):c.579del (p.Trp194fs) rs2101094012
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer) rs1650336680
NM_000642.3(AGL):c.609del (p.Lys203fs) rs1571232404
NM_000642.3(AGL):c.613A>T (p.Lys205Ter) rs562042076
NM_000642.3(AGL):c.634del (p.Cys212fs) rs1650343836
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)
NM_000642.3(AGL):c.671del (p.Asn224fs) rs2101111970
NM_000642.3(AGL):c.716dup (p.Asn240fs) rs2101112150
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.795del (p.Lys265fs)
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)
NM_000642.3(AGL):c.825del (p.Ile275fs) rs2101112572
NM_000642.3(AGL):c.853del (p.Arg285fs)
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.894del (p.Trp299fs)
NM_000642.3(AGL):c.939del (p.Phe313fs) rs760589837
NM_000642.3(AGL):c.955C>T (p.Gln319Ter) rs753488821
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000642.3(AGL):c.958+1G>T rs1553184657
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG
NM_000642.3(AGL):c.966dup (p.Arg323fs) rs35856689
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101

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