ClinVar Miner

List of variants in gene AGRN reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.3388+125T>C rs3128100 0.98469
NM_198576.4(AGRN):c.3388+176T>C rs3128101 0.90880
NM_198576.4(AGRN):c.2255-81G>A rs3128097 0.89344
NM_198576.4(AGRN):c.*156C>T rs2710872 0.87496
NM_198576.4(AGRN):c.1178-6T>C rs2799066 0.86601
NM_198576.4(AGRN):c.2537-26A>G rs3128098 0.84465
NM_198576.4(AGRN):c.3558T>C (p.Phe1186=) rs10267 0.80748
NM_198576.4(AGRN):c.3388+107A>G rs3128099 0.80625
NM_198576.4(AGRN):c.3066A>G (p.Ser1022=) rs2465128 0.79176
NM_198576.4(AGRN):c.1384+238C>T rs2710875 0.79091
NM_198576.4(AGRN):c.3517-12T>C rs3128102 0.78058
NM_198576.4(AGRN):c.5651+5C>T rs9803031 0.77551
NM_198576.4(AGRN):c.1384+28G>A rs2710876 0.77416
NM_198576.4(AGRN):c.5254-190C>T rs2710887 0.76955
NM_198576.4(AGRN):c.728-39C>A rs79290478 0.59863
NM_198576.4(AGRN):c.6057C>T (p.Asp2019=) rs4275402 0.58285
NM_198576.4(AGRN):c.4879+32G>A rs2799067 0.55443
NM_198576.4(AGRN):c.4298+56del rs558237106 0.52555
NM_198576.4(AGRN):c.4161T>C (p.Thr1387=) rs9442391 0.49370
NM_198576.4(AGRN):c.4879+33G>A rs397834473 0.48003
NM_198576.4(AGRN):c.4106-75_4106-74del rs140904842 0.45112
NM_198576.4(AGRN):c.4745-17C>T rs2275813 0.43854
NM_198576.4(AGRN):c.1385-15_1385-14del rs35881187 0.42851
NM_198576.4(AGRN):c.1177+121G>C rs3121552 0.41548
NM_198576.4(AGRN):c.*56T>C rs2465136 0.39279
NM_198576.4(AGRN):c.*19C>T rs3121561 0.35770
NM_198576.4(AGRN):c.4879+29G>T rs2275812 0.34370
NM_198576.4(AGRN):c.45G>T (p.Pro15=) rs115173026 0.30814
NM_198576.4(AGRN):c.4879+43T>C rs2275811 0.20553
NM_198576.4(AGRN):c.*172G>A rs4308920 0.12261
NM_198576.4(AGRN):c.5876+143G>A rs72900467 0.08980
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=) rs17160781 0.08292
NM_198576.4(AGRN):c.4514+57A>G rs112331531 0.07657
NM_198576.4(AGRN):c.4514+16G>C rs112917612 0.06389
NM_198576.4(AGRN):c.4106-214C>T rs113822357 0.06331
NM_198576.4(AGRN):c.4106-186C>T rs138543764 0.06122
NM_198576.4(AGRN):c.4106-145G>A rs149267690 0.05929
NM_198576.4(AGRN):c.4106-231G>A rs112285003 0.05827
NM_198576.4(AGRN):c.5253+69C>T rs55707163 0.05585
NM_198576.4(AGRN):c.5141+28G>T rs111726760 0.05398
NM_198576.4(AGRN):c.5253+68C>T rs112497350 0.05398
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05034
NM_198576.4(AGRN):c.5876+104G>A rs9778201 0.04896
NM_198576.4(AGRN):c.511+132G>A rs112116228 0.04843
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile) rs17160775 0.04750
NM_198576.4(AGRN):c.5141+39T>C rs116257587 0.04736
NM_198576.4(AGRN):c.804C>T (p.Ala268=) rs113789806 0.04656
NM_198576.4(AGRN):c.4745-44C>T rs115192323 0.04588
NM_198576.4(AGRN):c.5070C>T (p.Phe1690=) rs17160776 0.04120
NM_198576.4(AGRN):c.1177+91_1177+95del rs1266491527 0.03483
NM_198576.4(AGRN):c.2183A>T (p.Glu728Val) rs113288277 0.02946
NM_198576.4(AGRN):c.2555A>G (p.Gln852Arg) rs9697293 0.02583
NM_198576.4(AGRN):c.3388+147C>T rs3813191 0.02471
NM_198576.4(AGRN):c.3388+145C>T rs3813190 0.02468
NM_198576.4(AGRN):c.2254+16G>A rs114389542 0.02329
NM_198576.4(AGRN):c.2255-265C>T rs115449966 0.02321
NM_198576.4(AGRN):c.2254+258C>T rs116106396 0.02314
NM_198576.4(AGRN):c.2149-24G>A rs115413462 0.02269
NM_198576.4(AGRN):c.4298+17C>T rs188005130 0.01868
NM_198576.4(AGRN):c.4977-10A>G rs142286944 0.01828
NM_198576.4(AGRN):c.4298+50G>T rs762581337 0.01825
NM_198576.4(AGRN):c.5651+58C>T rs113261977 0.01792
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg) rs150359724 0.01713
NM_198576.4(AGRN):c.2254+71C>T rs116273657 0.01711
NM_198576.4(AGRN):c.512-264C>T rs116503955 0.01702
NM_198576.4(AGRN):c.4879+30G>T rs769247508 0.01575
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=) rs115019873 0.01570
NM_198576.4(AGRN):c.511+84G>A rs116010269 0.01523
NM_198576.4(AGRN):c.3388+66C>T rs147362722 0.01512
NM_198576.4(AGRN):c.4105+25G>A rs114691276 0.01413
NM_198576.4(AGRN):c.11G>C (p.Arg4Pro) rs539283387 0.01336
NM_198576.4(AGRN):c.1178-42G>A rs114521679 0.01294
NM_198576.4(AGRN):c.2254+118G>A rs72900439 0.01274
NM_198576.4(AGRN):c.4976+44G>A rs60267685 0.01257
NM_198576.4(AGRN):c.3570C>T (p.Arg1190=) rs75361935 0.01197
NM_198576.4(AGRN):c.2025C>G (p.Gly675=) rs28484890 0.01118
NM_198576.4(AGRN):c.2255-101G>A rs112752525 0.01114
NM_198576.4(AGRN):c.2406C>T (p.Gly802=) rs75774767 0.01095
NM_198576.4(AGRN):c.4452C>T (p.Thr1484=) rs75767981 0.01049
NM_198576.4(AGRN):c.464-202G>A rs116522930 0.01035
NM_198576.4(AGRN):c.4514+50C>G rs111525350 0.00947
NM_198576.4(AGRN):c.729C>G (p.Gly243=) rs191270495 0.00922
NM_198576.4(AGRN):c.1385-169G>A rs112281809 0.00905
NM_198576.4(AGRN):c.4879+92G>A rs111638438 0.00897
NM_198576.4(AGRN):c.512-219A>G rs138343243 0.00886
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_198576.4(AGRN):c.4695G>C (p.Gln1565His) rs199876002 0.00827
NM_198576.4(AGRN):c.738C>T (p.Asp246=) rs536085218 0.00811
NM_198576.4(AGRN):c.5223C>T (p.Gly1741=) rs147681220 0.00805
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp) rs184970403 0.00799
NM_198576.4(AGRN):c.3972G>A (p.Pro1324=) rs201483077 0.00799
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00781
NM_198576.4(AGRN):c.4893C>T (p.Asp1631=) rs139400715 0.00732
NM_198576.4(AGRN):c.1177+71G>T rs1435024596 0.00730
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr) rs74685771 0.00700
NM_198576.4(AGRN):c.1603+19G>A rs115191992 0.00697
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478 0.00691
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566 0.00657
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu) rs139294803 0.00637
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn) rs144245019 0.00636
NM_198576.4(AGRN):c.5142-50C>T rs28545735 0.00633
NM_198576.4(AGRN):c.1999+34C>T rs151102274 0.00589
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg) rs142416636 0.00588
NM_198576.4(AGRN):c.512-148C>A rs115577723 0.00585
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369 0.00583
NM_198576.4(AGRN):c.1603+10G>A rs60074964 0.00575
NM_198576.4(AGRN):c.5352C>T (p.Phe1784=) rs112073270 0.00537
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_198576.4(AGRN):c.2536+45C>T rs183108359 0.00533
NM_198576.4(AGRN):c.5667G>A (p.Gln1889=) rs115061121 0.00532
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_198576.4(AGRN):c.4514+29C>T rs146377446 0.00485
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu) rs144620006 0.00426
NM_198576.4(AGRN):c.3517-47G>A rs146562180 0.00401
NM_198576.4(AGRN):c.5896C>T (p.Leu1966=) rs115828965 0.00378
NM_198576.4(AGRN):c.5254-173G>A rs571906979 0.00344
NM_198576.4(AGRN):c.2371+39C>T rs116366767 0.00341
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=) rs113020870 0.00302
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_198576.4(AGRN):c.5254-174C>T rs189053615 0.00291
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068 0.00284
NM_198576.4(AGRN):c.1434G>A (p.Thr478=) rs147346337 0.00281
NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys) rs148518738 0.00268
NM_198576.4(AGRN):c.800C>T (p.Thr267Met) rs566673314 0.00265
NM_198576.4(AGRN):c.3533G>A (p.Arg1178Gln) rs148430436 0.00264
NM_198576.4(AGRN):c.5254-5C>T rs34708466 0.00248
NM_198576.4(AGRN):c.5466A>G (p.Ser1822=) rs149659540 0.00233
NM_198576.4(AGRN):c.773C>T (p.Thr258Ile) rs200607541 0.00231
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=) rs368555478 0.00225
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu) rs116586548 0.00216
NM_198576.4(AGRN):c.3353C>A (p.Thr1118Lys) rs149159118 0.00204
NM_198576.4(AGRN):c.494C>T (p.Pro165Leu) rs140954236 0.00204
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val) rs116836855 0.00203
NM_198576.4(AGRN):c.3926G>A (p.Arg1309Gln) rs199680125 0.00143
NM_198576.4(AGRN):c.4821C>T (p.Pro1607=) rs149543827 0.00134
NM_198576.4(AGRN):c.752T>C (p.Val251Ala) rs779170859 0.00125
NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys) rs147259096 0.00113
NM_198576.4(AGRN):c.5370+11G>A rs373058941 0.00104
NM_198576.4(AGRN):c.2508C>T (p.Ile836=) rs148864199 0.00102
NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln) rs146243145 0.00094
NM_198576.4(AGRN):c.44C>G (p.Pro15Arg) rs764659938 0.00088
NM_198576.4(AGRN):c.5877-17C>A rs199552967 0.00083
NM_198576.4(AGRN):c.5643G>A (p.Val1881=) rs142242736 0.00074
NM_198576.4(AGRN):c.3819C>T (p.Ala1273=) rs142597617 0.00070
NM_198576.4(AGRN):c.4323G>A (p.Ala1441=) rs373287346 0.00066
NM_198576.4(AGRN):c.4272G>A (p.Ala1424=) rs201470321 0.00061
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln) rs200339732 0.00053
NM_198576.4(AGRN):c.4734C>T (p.Pro1578=) rs186574226 0.00049
NM_198576.4(AGRN):c.2309C>T (p.Pro770Leu) rs113017128 0.00038
NM_198576.4(AGRN):c.2536C>T (p.Pro846Ser) rs138248828 0.00035
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_198576.4(AGRN):c.2601G>A (p.Ser867=) rs144794590 0.00025
NM_198576.4(AGRN):c.4967G>A (p.Arg1656Gln) rs374905300 0.00021
NM_198576.4(AGRN):c.523A>G (p.Met175Val) rs575663792 0.00020
NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn) rs148315419 0.00015
NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp) rs147673996 0.00013
NM_198576.4(AGRN):c.149C>T (p.Thr50Met) rs767809484 0.00011
NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln) rs140789461 0.00007
NM_198576.4(AGRN):c.5107C>T (p.Arg1703Cys) rs151104255 0.00007
NM_198576.4(AGRN):c.1945G>A (p.Ala649Thr) rs555209196 0.00006
NM_198576.4(AGRN):c.3516+8G>A rs199620555 0.00006
NM_198576.4(AGRN):c.4298+6C>T rs199977575 0.00006
NM_198576.4(AGRN):c.5651+14C>T rs766872717 0.00006
NM_198576.4(AGRN):c.5743C>T (p.Arg1915Trp) rs140892896 0.00006
NM_198576.4(AGRN):c.3074G>A (p.Arg1025Gln) rs372696395 0.00005
NM_198576.4(AGRN):c.4298+11A>T rs369279324 0.00005
NM_198576.4(AGRN):c.5210C>T (p.Ala1737Val) rs374922434 0.00005
NM_198576.4(AGRN):c.2371+12A>G rs375177822 0.00004
NM_198576.4(AGRN):c.4319C>T (p.Pro1440Leu) rs1013476257 0.00004
NM_198576.4(AGRN):c.4651C>T (p.His1551Tyr) rs771455197 0.00004
NM_198576.4(AGRN):c.498G>A (p.Pro166=) rs775955535 0.00004
NM_198576.4(AGRN):c.5990C>T (p.Pro1997Leu) rs144091542 0.00004
NM_198576.4(AGRN):c.1177+4A>G rs28397093 0.00003
NM_198576.4(AGRN):c.4562G>A (p.Arg1521His) rs371871999 0.00003
NM_198576.4(AGRN):c.5615G>A (p.Arg1872Gln) rs767076670 0.00003
NM_198576.4(AGRN):c.2147C>T (p.Pro716Leu) rs535766401 0.00002
NM_198576.4(AGRN):c.5387G>A (p.Arg1796His) rs774881136 0.00002
NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser) rs1042435801 0.00001
NM_198576.4(AGRN):c.2499T>C (p.Phe833=) rs753858864 0.00001
NM_198576.4(AGRN):c.2522G>A (p.Arg841Gln) rs756103278 0.00001
NM_198576.4(AGRN):c.3255C>T (p.Leu1085=) rs775823409 0.00001
NM_198576.4(AGRN):c.3430G>A (p.Glu1144Lys) rs200603885 0.00001
NM_198576.4(AGRN):c.49C>T (p.Leu17Phe) rs1057523287 0.00001
NM_198576.4(AGRN):c.5413C>T (p.Leu1805=) rs751461791 0.00001
NM_198576.4(AGRN):c.940G>C (p.Asp314His) rs756357739 0.00001
NC_000001.11:g.1020067_1020068CCGC[2]C[1] rs1553170651
NC_000001.11:g.1020068_1020069del rs569722974
NC_000001.11:g.1020069del rs569722974
NM_198576.4(AGRN):c.1177+109_1178-99del rs70949546
NM_198576.4(AGRN):c.1177+98_1178-115del rs1205795915
NM_198576.4(AGRN):c.1301G>T (p.Arg434Leu)
NM_198576.4(AGRN):c.1571G>A (p.Arg524Gln)
NM_198576.4(AGRN):c.201+138G>T rs555803746
NM_198576.4(AGRN):c.2457G>A (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.2536+57del rs139005472
NM_198576.4(AGRN):c.2650C>T (p.Arg884Cys) rs539990009
NM_198576.4(AGRN):c.2713C>G (p.Arg905Gly) rs199593375
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.3388+135G>T rs116472750
NM_198576.4(AGRN):c.3389-134C>T rs3813192
NM_198576.4(AGRN):c.3752-51C>T rs141487918
NM_198576.4(AGRN):c.3833G>T (p.Arg1278Leu) rs542631667
NM_198576.4(AGRN):c.4105+180C>A rs113521698
NM_198576.4(AGRN):c.4106-45A>G rs115499153
NM_198576.4(AGRN):c.4106-78dup rs57668569
NM_198576.4(AGRN):c.4106-81_4106-78del rs57668569
NM_198576.4(AGRN):c.4106-88_4106-78del rs57668569
NM_198576.4(AGRN):c.4120G>T (p.Val1374Leu) rs1057523585
NM_198576.4(AGRN):c.4298+54_4298+55dup rs754994713
NM_198576.4(AGRN):c.4298+55del rs754994713
NM_198576.4(AGRN):c.4298+55dup rs754994713
NM_198576.4(AGRN):c.4298+56_4298+57del rs567082250
NM_198576.4(AGRN):c.4298+6_4298+88del rs1553177542
NM_198576.4(AGRN):c.4621C>T (p.Arg1541Ter) rs750176911
NM_198576.4(AGRN):c.464-240A>C rs111329619
NM_198576.4(AGRN):c.4879+41del rs71576592
NM_198576.4(AGRN):c.511+211C>T rs115493882
NM_198576.4(AGRN):c.5141+67G>A rs28758798
NM_198576.4(AGRN):c.5141+67G>C rs28758798
NM_198576.4(AGRN):c.5312dup (p.Ser1772fs) rs1553178276
NM_198576.4(AGRN):c.5652-201G>C rs2710871
NM_198576.4(AGRN):c.5652-231C>A
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del) rs749209897
NM_198576.4(AGRN):c.6019A>G (p.Lys2007Glu) rs1057522367
NM_198576.4(AGRN):c.6071G>A (p.Arg2024Gln)
NM_198576.4(AGRN):c.728-51_728-49del rs1266764583

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