ClinVar Miner

Variants in gene AGL with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2371 464 0 159 79 0 9 241

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 131 1 0 0
likely pathogenic 131 0 8 0 1
uncertain significance 1 8 0 76 7
likely benign 0 0 76 0 28
benign 0 1 7 28 0

All variants with conflicting interpretations #

Total variants: 241
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.3588+36T>G rs548255 0.01920
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01398
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01311
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01278
NM_000642.3(AGL):c.*2058G>A rs12117747 0.00930
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00858
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.3259+26A>G rs12073608 0.00370
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00316
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00223
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00200
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718 0.00153
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00148
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 0.00120
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00109
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708 0.00075
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00050
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.2941A>G (p.Ile981Val) rs148981763 0.00036
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.1333A>G (p.Met445Val) rs140375476 0.00027
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115 0.00027
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00018
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00018
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00017
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746 0.00016
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00013
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00012
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00010
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_000642.3(AGL):c.1423+3A>G rs766117687 0.00008
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) rs1480850606 0.00007
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00007
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.4189G>A (p.Ala1397Thr) rs375755924 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378 0.00004
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) rs781127120 0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969 0.00004
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757 0.00004
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2950-5T>G rs760229683 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.1482C>T (p.Arg494=) rs781451112 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.4186A>G (p.Lys1396Glu) rs539403694 0.00002
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615 0.00002
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs) rs1487094304 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438 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.1156C>T (p.His386Tyr) rs781761176 0.00001
NM_000642.3(AGL):c.1284-12A>C rs886044918 0.00001
NM_000642.3(AGL):c.1650A>G (p.Leu550=) rs778806512 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1758T>C (p.Ser586=) rs1402386421 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000642.3(AGL):c.2002-5T>A rs201718705 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.2100A>G (p.Ala700=) rs1176932146 0.00001
NM_000642.3(AGL):c.2193A>G (p.Ala731=) rs1652031034 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.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter) rs1185515418 0.00001
NM_000642.3(AGL):c.3014del (p.Cys1005fs) rs754653701 0.00001
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter) rs539108137 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.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.3642C>T (p.Gly1214=) rs1261746082 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.3771C>T (p.Gly1257=) rs760738241 0.00001
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250 0.00001
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922 0.00001
NM_000642.3(AGL):c.471del (p.Met157fs) rs1650328268 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586 0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter) rs971749992 0.00001
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986 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
NM_000642.3(AGL):c.958+12A>G rs1227779911 0.00001
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.1044A>G (p.Val348=) rs2101126342
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1107del (p.Glu369fs) rs2524599094
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) rs1557746521
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter) rs1651412496
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.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter) rs200607707
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1263A>G (p.Arg421=) rs1175506369
NM_000642.3(AGL):c.1284G>A (p.Arg428=) rs1651537285
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1612-1G>A rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter) rs2524635932
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) rs1651872905
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) rs1651881949
NM_000642.3(AGL):c.1736-11A>G rs2101148246
NM_000642.3(AGL):c.1777del (p.Val593fs)
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
NM_000642.3(AGL):c.1794A>G (p.Gly598=) rs1651940013
NM_000642.3(AGL):c.1830del (p.Arg610fs) rs2101148971
NM_000642.3(AGL):c.1899+9C>G rs768285138
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter) rs2524647813
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.2094T>C (p.Ile698=) rs750666972
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.2166G>T (p.Val722=) rs2100760140
NM_000642.3(AGL):c.2214del (p.Ser738fs)
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.2278del (p.Ser760fs) rs1057517136
NM_000642.3(AGL):c.2319A>G (p.Glu773=) rs1570450735
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs) rs774652075
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs) rs774652075
NM_000642.3(AGL):c.2373G>A (p.Lys791=) rs991354584
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) rs1057516254
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.293+1G>T rs946922101
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3088del (p.Val1030fs) rs2524730915
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3227_3231del (p.Glu1076fs) rs1652985519
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.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3299del (p.Gly1100fs) rs2524757369
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
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.3589-1G>A rs1289339080
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) rs2523735493
NM_000642.3(AGL):c.366A>T (p.Leu122=) rs1386596170
NM_000642.3(AGL):c.3682C>A (p.Arg1228=) rs113994131
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
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.3911del (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter) rs1183383313
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000642.3(AGL):c.4131C>T (p.Leu1377=) rs751505814
NM_000642.3(AGL):c.4162-10C>T rs2523844506
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.4193G>A (p.Trp1398Ter) rs1344484845
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4256dup (p.Asp1420fs) rs1557792839
NM_000642.3(AGL):c.4259+5G>A rs780504025
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.4348-3dup rs886044921
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4448del (p.Asn1483fs) rs2100876453
NM_000642.3(AGL):c.4525del (p.Gln1509fs) rs1175546784
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.594del (p.Gln199fs)
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.655A>G (p.Asn219Asp) rs1332399736
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000642.3(AGL):c.808G>T (p.Gly270Ter) rs1650900557
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.947_948del (p.Leu316fs) rs1650934988
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101

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