ClinVar Miner

List of variants in gene AKT1 reported as likely benign for Cowden syndrome 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00045
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=) rs139394285 0.00043
NM_001382430.1(AKT1):c.126G>A (p.Pro42=) rs375645311 0.00025
NM_001382430.1(AKT1):c.1227C>T (p.Ala409=) rs141303557 0.00019
NM_001382430.1(AKT1):c.783G>A (p.Leu261=) rs143933508 0.00017
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) rs778376616 0.00015
NM_001382430.1(AKT1):c.855C>T (p.Asp285=) rs149484260 0.00013
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=) rs184263655 0.00011
NM_001382430.1(AKT1):c.1107G>A (p.Pro369=) rs150399268 0.00009
NM_001382430.1(AKT1):c.1261-18G>A rs376284145 0.00009
NM_001382430.1(AKT1):c.1329G>A (p.Thr443=) rs376893212 0.00009
NM_001382430.1(AKT1):c.47-13C>T rs529203460 0.00009
NM_001382430.1(AKT1):c.906C>T (p.Asp302=) rs746001369 0.00008
NM_001382430.1(AKT1):c.46+19G>A rs769199033 0.00007
NM_001382430.1(AKT1):c.1233C>T (p.Ile411=) rs375901448 0.00006
NM_001382430.1(AKT1):c.435+17C>T rs372112260 0.00006
NM_001382430.1(AKT1):c.798G>A (p.Ser266=) rs367635775 0.00006
NM_001382430.1(AKT1):c.828+10C>T rs370490407 0.00006
NM_001382430.1(AKT1):c.879C>T (p.Phe293=) rs139200289 0.00006
NM_001382430.1(AKT1):c.195G>A (p.Thr65=) rs768384015 0.00005
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) rs780207480 0.00005
NM_001382430.1(AKT1):c.9C>T (p.Asp3=) rs56217512 0.00005
NM_001382430.1(AKT1):c.1122C>T (p.Pro374=) rs374865919 0.00004
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=) rs151254374 0.00004
NM_001382430.1(AKT1):c.1431C>T (p.Ser477=) rs200213561 0.00004
NM_001382430.1(AKT1):c.176-4G>A rs776399604 0.00004
NM_001382430.1(AKT1):c.237G>A (p.Gln79=) rs747020429 0.00004
NM_001382430.1(AKT1):c.287+16C>T rs751067863 0.00004
NM_001382430.1(AKT1):c.315T>C (p.Thr105=) rs767715614 0.00004
NM_001382430.1(AKT1):c.324C>T (p.Asp108=) rs940028787 0.00004
NM_001382430.1(AKT1):c.444C>T (p.Asn148=) rs752894366 0.00004
NM_001382430.1(AKT1):c.483C>T (p.Phe161=) rs139904675 0.00004
NM_001382430.1(AKT1):c.528C>T (p.Tyr176=) rs1422460834 0.00004
NM_001382430.1(AKT1):c.660C>T (p.His220=) rs141168205 0.00004
NM_001382430.1(AKT1):c.702+17C>T rs372953510 0.00004
NM_001382430.1(AKT1):c.951C>A (p.Ala317=) rs17846831 0.00004
NM_001382430.1(AKT1):c.1053C>T (p.Asn351=) rs376942361 0.00003
NM_001382430.1(AKT1):c.120G>A (p.Glu40=) rs370287382 0.00003
NM_001382430.1(AKT1):c.1260+16G>A rs768750733 0.00003
NM_001382430.1(AKT1):c.1364-10A>G rs755530413 0.00003
NM_001382430.1(AKT1):c.47-9C>T rs776342530 0.00003
NM_001382430.1(AKT1):c.567+8C>T rs752874396 0.00003
NM_001382430.1(AKT1):c.633+15A>G rs770757599 0.00003
NM_001382430.1(AKT1):c.1260+15C>T rs774786647 0.00002
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=) rs555187157 0.00002
NM_001382430.1(AKT1):c.287+17G>A rs763570822 0.00002
NM_001382430.1(AKT1):c.303C>T (p.Thr101=) rs750890213 0.00002
NM_001382430.1(AKT1):c.453G>A (p.Glu151=) rs765537155 0.00002
NM_001382430.1(AKT1):c.567+9G>A rs200724383 0.00002
NM_001382430.1(AKT1):c.606G>A (p.Leu202=) rs759079296 0.00002
NM_001382430.1(AKT1):c.634-13C>T rs754944632 0.00002
NM_001382430.1(AKT1):c.687C>T (p.Tyr229=) rs769696222 0.00002
NM_001382430.1(AKT1):c.696G>A (p.Gly232=) rs201006619 0.00002
NM_001382430.1(AKT1):c.6C>T (p.Ser2=) rs371534192 0.00002
NM_001382430.1(AKT1):c.702+18G>A rs750119740 0.00002
NM_001382430.1(AKT1):c.703-5C>T rs377077146 0.00002
NM_001382430.1(AKT1):c.738C>T (p.Ser246=) rs368667384 0.00002
NM_001382430.1(AKT1):c.1011G>A (p.Val337=) rs1043166019 0.00001
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=) rs1566816352 0.00001
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=) rs1595241867 0.00001
NM_001382430.1(AKT1):c.1134C>T (p.Ser378=) rs369527283 0.00001
NM_001382430.1(AKT1):c.1172+10G>A rs200702576 0.00001
NM_001382430.1(AKT1):c.1172+16C>G rs759249014 0.00001
NM_001382430.1(AKT1):c.1172+4A>C rs1319947920 0.00001
NM_001382430.1(AKT1):c.1172+9C>T rs529348439 0.00001
NM_001382430.1(AKT1):c.1173-6C>G rs1036107517 0.00001
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=) rs748654766 0.00001
NM_001382430.1(AKT1):c.1245C>T (p.His415=) rs758476416 0.00001
NM_001382430.1(AKT1):c.1260+18A>G rs762981122 0.00001
NM_001382430.1(AKT1):c.1260+7C>T rs750823961 0.00001
NM_001382430.1(AKT1):c.1261-10A>C rs1278310321 0.00001
NM_001382430.1(AKT1):c.1261-19C>T rs1443985201 0.00001
NM_001382430.1(AKT1):c.1261-20C>T rs771248358 0.00001
NM_001382430.1(AKT1):c.1290G>A (p.Thr430=) rs779447501 0.00001
NM_001382430.1(AKT1):c.1293G>A (p.Ser431=) rs750104452 0.00001
NM_001382430.1(AKT1):c.132T>C (p.Asp44=) rs1347356104 0.00001
NM_001382430.1(AKT1):c.1363+9C>T rs926451222 0.00001
NM_001382430.1(AKT1):c.176-8G>A rs1060504818 0.00001
NM_001382430.1(AKT1):c.201G>T (p.Arg67=) rs1452532489 0.00001
NM_001382430.1(AKT1):c.252C>T (p.Ile84=) rs1027097620 0.00001
NM_001382430.1(AKT1):c.267T>C (p.His89=) rs142646145 0.00001
NM_001382430.1(AKT1):c.294G>A (p.Glu98=) rs766755485 0.00001
NM_001382430.1(AKT1):c.387A>G (p.Ser129=) rs747700076 0.00001
NM_001382430.1(AKT1):c.436-18C>A rs746274769 0.00001
NM_001382430.1(AKT1):c.438C>T (p.Thr146=) rs145780379 0.00001
NM_001382430.1(AKT1):c.457C>T (p.Leu153=) rs149803079 0.00001
NM_001382430.1(AKT1):c.46+10C>T rs372014221 0.00001
NM_001382430.1(AKT1):c.47-5T>C rs746664907 0.00001
NM_001382430.1(AKT1):c.495C>T (p.Ile165=) rs1161567933 0.00001
NM_001382430.1(AKT1):c.525C>T (p.Tyr175=) rs774828129 0.00001
NM_001382430.1(AKT1):c.568-14_568-11dup rs745536266 0.00001
NM_001382430.1(AKT1):c.591C>T (p.Thr197=) rs763782135 0.00001
NM_001382430.1(AKT1):c.633+9G>A rs1238078801 0.00001
NM_001382430.1(AKT1):c.684G>A (p.Glu228=) rs1276744835 0.00001
NM_001382430.1(AKT1):c.693C>T (p.Asn231=) rs767346459 0.00001
NM_001382430.1(AKT1):c.703-12C>T rs753076466 0.00001
NM_001382430.1(AKT1):c.703-4G>A rs776642823 0.00001
NM_001382430.1(AKT1):c.705G>T (p.Leu235=) rs769090254 0.00001
NM_001382430.1(AKT1):c.810G>A (p.Val270=) rs2230508 0.00001
NM_001382430.1(AKT1):c.876C>T (p.Asp292=) rs761942512 0.00001
NM_001382430.1(AKT1):c.957+17C>T rs191423993 0.00001
NM_001382430.1(AKT1):c.957+7G>A rs771514399 0.00001
NM_001382430.1(AKT1):c.978C>T (p.Tyr326=) rs55874341 0.00001
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=) rs1489572550
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=) rs1060504819
NM_001382430.1(AKT1):c.1039C>T (p.Leu347=)
NM_001382430.1(AKT1):c.1083C>T (p.Ile361=) rs1402373492
NM_001382430.1(AKT1):c.1086C>T (p.Leu362=) rs2140901197
NM_001382430.1(AKT1):c.1107G>C (p.Pro369=) rs150399268
NM_001382430.1(AKT1):c.1113G>A (p.Thr371=) rs747408700
NM_001382430.1(AKT1):c.1113G>C (p.Thr371=) rs747408700
NM_001382430.1(AKT1):c.1119T>A (p.Gly373=) rs2140900738
NM_001382430.1(AKT1):c.1146G>A (p.Gly382=) rs755174756
NM_001382430.1(AKT1):c.1149G>A (p.Leu383=) rs767207905
NM_001382430.1(AKT1):c.1161C>T (p.Asp387=) rs1309319250
NM_001382430.1(AKT1):c.1172+7G>A rs763680129
NM_001382430.1(AKT1):c.1172+9C>A rs529348439
NM_001382430.1(AKT1):c.1173-18C>T
NM_001382430.1(AKT1):c.1173-8G>A
NM_001382430.1(AKT1):c.1173-8G>C
NM_001382430.1(AKT1):c.1176T>C (p.Leu392=) rs1049525123
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=) rs911689817
NM_001382430.1(AKT1):c.1248G>A (p.Val416=) rs1595241057
NM_001382430.1(AKT1):c.1260+19T>C
NM_001382430.1(AKT1):c.1260+7C>G
NM_001382430.1(AKT1):c.1261-8C>T
NM_001382430.1(AKT1):c.126G>T (p.Pro42=)
NM_001382430.1(AKT1):c.1278G>A (p.Lys426=) rs1595239120
NM_001382430.1(AKT1):c.1281C>T (p.Pro427=)
NM_001382430.1(AKT1):c.1284G>A (p.Gln428=)
NM_001382430.1(AKT1):c.129G>A (p.Gln43=) rs2140949061
NM_001382430.1(AKT1):c.1305C>T (p.Thr435=)
NM_001382430.1(AKT1):c.1311T>C (p.Tyr437=)
NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=) rs1060504820
NM_001382430.1(AKT1):c.135G>A (p.Val45=)
NM_001382430.1(AKT1):c.1364-10A>C
NM_001382430.1(AKT1):c.1364-11T>C
NM_001382430.1(AKT1):c.1364-9C>T
NM_001382430.1(AKT1):c.1383G>A (p.Val461=) rs763831402
NM_001382430.1(AKT1):c.1386C>T (p.Asp462=)
NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=) rs1221539515
NM_001382430.1(AKT1):c.141A>G (p.Gln47=)
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=) rs555187157
NM_001382430.1(AKT1):c.153C>T (p.Pro51=)
NM_001382430.1(AKT1):c.165C>T (p.Phe55=) rs1892948975
NM_001382430.1(AKT1):c.171G>A (p.Val57=)
NM_001382430.1(AKT1):c.175+16G>C rs2140948331
NM_001382430.1(AKT1):c.176-16C>T
NM_001382430.1(AKT1):c.176-19A>G
NM_001382430.1(AKT1):c.176-5C>T rs377076374
NM_001382430.1(AKT1):c.176-7C>T
NM_001382430.1(AKT1):c.186G>A (p.Leu62=)
NM_001382430.1(AKT1):c.195G>C (p.Thr65=)
NM_001382430.1(AKT1):c.222C>T (p.Ile74=) rs2140930465
NM_001382430.1(AKT1):c.27G>A (p.Glu9=)
NM_001382430.1(AKT1):c.285G>A (p.Glu95=)
NM_001382430.1(AKT1):c.287+12G>A
NM_001382430.1(AKT1):c.287+14G>A
NM_001382430.1(AKT1):c.288-13T>A
NM_001382430.1(AKT1):c.288-20C>T
NM_001382430.1(AKT1):c.288-4G>T rs778501455
NM_001382430.1(AKT1):c.288-7_288-5del rs1206923979
NM_001382430.1(AKT1):c.309C>T (p.Ile103=) rs2140922911
NM_001382430.1(AKT1):c.318G>C (p.Val106=) rs761930839
NM_001382430.1(AKT1):c.333G>A (p.Lys111=)
NM_001382430.1(AKT1):c.348G>A (p.Glu116=) rs1595245735
NM_001382430.1(AKT1):c.351G>A (p.Glu117=) rs1268659696
NM_001382430.1(AKT1):c.357C>T (p.Asp119=) rs934041027
NM_001382430.1(AKT1):c.399G>A (p.Glu133=) rs1892659025
NM_001382430.1(AKT1):c.412C>T (p.Leu138=) rs2140922009
NM_001382430.1(AKT1):c.435+10G>A
NM_001382430.1(AKT1):c.435+10G>T rs768098229
NM_001382430.1(AKT1):c.435+18T>C
NM_001382430.1(AKT1):c.436-4A>G rs1060504821
NM_001382430.1(AKT1):c.43C>A (p.Arg15=) rs2141006801
NM_001382430.1(AKT1):c.46+10C>G rs372014221
NM_001382430.1(AKT1):c.46+11G>A rs1461937719
NM_001382430.1(AKT1):c.46+16C>T rs1893684068
NM_001382430.1(AKT1):c.46+20G>A rs1893683680
NM_001382430.1(AKT1):c.46+20G>T
NM_001382430.1(AKT1):c.46+9C>G
NM_001382430.1(AKT1):c.46+9C>T rs376917061
NM_001382430.1(AKT1):c.468G>A (p.Leu156=) rs2140917965
NM_001382430.1(AKT1):c.47-4G>A rs772346934
NM_001382430.1(AKT1):c.47-4G>C rs772346934
NM_001382430.1(AKT1):c.47-4G>T rs772346934
NM_001382430.1(AKT1):c.47-8G>A rs770565457
NM_001382430.1(AKT1):c.47-8G>T rs770565457
NM_001382430.1(AKT1):c.48G>C (p.Gly16=)
NM_001382430.1(AKT1):c.552A>G (p.Glu184=) rs1422104904
NM_001382430.1(AKT1):c.561G>A (p.Val187=) rs757639898
NM_001382430.1(AKT1):c.561G>T (p.Val187=)
NM_001382430.1(AKT1):c.567+13C>T
NM_001382430.1(AKT1):c.567+19G>T rs2140916086
NM_001382430.1(AKT1):c.567+20G>T
NM_001382430.1(AKT1):c.568-16C>G
NM_001382430.1(AKT1):c.568-16C>T
NM_001382430.1(AKT1):c.568-20C>T
NM_001382430.1(AKT1):c.576G>A (p.Val192=)
NM_001382430.1(AKT1):c.588C>T (p.Leu196=)
NM_001382430.1(AKT1):c.612C>T (p.Asn204=) rs1044733473
NM_001382430.1(AKT1):c.633+12C>A
NM_001382430.1(AKT1):c.633+12C>T
NM_001382430.1(AKT1):c.633+16G>C
NM_001382430.1(AKT1):c.633+19G>C
NM_001382430.1(AKT1):c.633+7G>T rs2140915221
NM_001382430.1(AKT1):c.633+8_633+9dup
NM_001382430.1(AKT1):c.633+9dup rs774067656
NM_001382430.1(AKT1):c.634-14C>T
NM_001382430.1(AKT1):c.634-15T>C
NM_001382430.1(AKT1):c.669C>G (p.Leu223=) rs376531915
NM_001382430.1(AKT1):c.703-11G>A
NM_001382430.1(AKT1):c.705G>A (p.Leu235=) rs769090254
NM_001382430.1(AKT1):c.711C>T (p.Phe237=)
NM_001382430.1(AKT1):c.747G>T (p.Arg249=) rs2140907069
NM_001382430.1(AKT1):c.750C>G (p.Ala250=) rs1892522821
NM_001382430.1(AKT1):c.756C>T (p.Phe252=)
NM_001382430.1(AKT1):c.765T>A (p.Ala255=)
NM_001382430.1(AKT1):c.765T>C (p.Ala255=)
NM_001382430.1(AKT1):c.81C>T (p.Phe27=) rs749781543
NM_001382430.1(AKT1):c.822C>T (p.Asp274=) rs1555383496
NM_001382430.1(AKT1):c.828+11G>A rs370808079
NM_001382430.1(AKT1):c.828+13G>A
NM_001382430.1(AKT1):c.828+16_828+18delinsTTT rs2140906220
NM_001382430.1(AKT1):c.828+7del rs1555383494
NM_001382430.1(AKT1):c.828+9G>A
NM_001382430.1(AKT1):c.829-4C>G
NM_001382430.1(AKT1):c.829-9T>C rs1892508128
NM_001382430.1(AKT1):c.844C>T (p.Leu282=)
NM_001382430.1(AKT1):c.87C>G (p.Leu29=) rs1161618144
NM_001382430.1(AKT1):c.927T>C (p.Phe309=) rs1566816545
NM_001382430.1(AKT1):c.930C>T (p.Cys310=)
NM_001382430.1(AKT1):c.939T>C (p.Pro313=)
NM_001382430.1(AKT1):c.942G>A (p.Glu314=) rs2140905122
NM_001382430.1(AKT1):c.957+13C>T
NM_001382430.1(AKT1):c.957+14C>T
NM_001382430.1(AKT1):c.957+15T>C rs1473754212
NM_001382430.1(AKT1):c.958-7C>G rs369048965
NM_001382430.1(AKT1):c.958-8C>T
NM_001382430.1(AKT1):c.960G>A (p.Val320=) rs1595242097
NM_001382430.1(AKT1):c.99C>T (p.Gly33=)

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