ClinVar Miner

List of variants reported as uncertain significance for Cowden syndrome 6

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ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_001382430.1(AKT1):c.288-3C>T rs61761189 0.00016
NM_001382430.1(AKT1):c.7G>A (p.Asp3Asn) rs140532443 0.00011
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His) rs113547523 0.00006
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr) rs758456890 0.00006
NM_001382430.1(AKT1):c.1228G>A (p.Gly410Ser) rs146483593 0.00005
NM_001382430.1(AKT1):c.142C>T (p.Arg48Cys) rs374093099 0.00005
NM_001382430.1(AKT1):c.174G>A (p.Ala58=) rs560243859 0.00005
NM_001382430.1(AKT1):c.10G>A (p.Val4Met) rs754031503 0.00004
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys) rs745803788 0.00004
NM_001382430.1(AKT1):c.287+5G>A rs373853807 0.00004
NM_001382430.1(AKT1):c.828+4C>T rs3730330 0.00004
NM_001382430.1(AKT1):c.1112C>A (p.Thr371Lys) rs781388586 0.00003
NM_001382430.1(AKT1):c.1198A>G (p.Lys400Glu) rs773607483 0.00003
NM_001382430.1(AKT1):c.1260+4C>T rs765999603 0.00003
NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile) rs751976958 0.00003
NM_001382430.1(AKT1):c.1373T>C (p.Met458Thr) rs587778018 0.00003
NM_001382430.1(AKT1):c.361C>T (p.Arg121Trp) rs369198922 0.00003
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln) rs1457484217 0.00003
NM_001382430.1(AKT1):c.751C>T (p.Arg251Cys) rs780571834 0.00003
NM_001382430.1(AKT1):c.1243C>T (p.His415Tyr) rs777696700 0.00002
NM_001382430.1(AKT1):c.1260+5G>A rs760365810 0.00002
NM_001382430.1(AKT1):c.1436C>T (p.Thr479Met) rs201291259 0.00002
NM_001382430.1(AKT1):c.199C>T (p.Arg67Trp) rs762559261 0.00002
NM_001382430.1(AKT1):c.278C>A (p.Pro93His) rs1296782302 0.00002
NM_001382430.1(AKT1):c.374C>T (p.Pro125Leu) rs759031755 0.00002
NM_001382430.1(AKT1):c.436-3T>C rs368553273 0.00002
NM_001382430.1(AKT1):c.664C>T (p.Arg222Cys) rs551254461 0.00002
NM_001382430.1(AKT1):c.101C>A (p.Thr34Asn) rs750653493 0.00001
NM_001382430.1(AKT1):c.1036C>T (p.Arg346Cys) rs1168658858 0.00001
NM_001382430.1(AKT1):c.107T>C (p.Ile36Thr) rs758157217 0.00001
NM_001382430.1(AKT1):c.1092G>A (p.Glu364=) rs773975370 0.00001
NM_001382430.1(AKT1):c.1099C>T (p.Arg367Cys) rs762705090 0.00001
NM_001382430.1(AKT1):c.1109G>A (p.Arg370His) rs746272761 0.00001
NM_001382430.1(AKT1):c.1172+5G>A rs751392710 0.00001
NM_001382430.1(AKT1):c.1189G>A (p.Glu397Lys) rs531850885 0.00001
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln) rs766000895 0.00001
NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met) rs749186394 0.00001
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg) rs759702315 0.00001
NM_001382430.1(AKT1):c.1372A>G (p.Met458Val) rs1360782672 0.00001
NM_001382430.1(AKT1):c.1432G>A (p.Gly478Ser) rs1205616929 0.00001
NM_001382430.1(AKT1):c.143G>A (p.Arg48His) rs774836044 0.00001
NM_001382430.1(AKT1):c.206G>A (p.Arg69Gln) rs183989506 0.00001
NM_001382430.1(AKT1):c.227G>A (p.Arg76His) rs771065764 0.00001
NM_001382430.1(AKT1):c.287+4C>T rs745831501 0.00001
NM_001382430.1(AKT1):c.325G>A (p.Gly109Ser) rs768800433 0.00001
NM_001382430.1(AKT1):c.343G>A (p.Glu115Lys) rs1338783398 0.00001
NM_001382430.1(AKT1):c.365C>T (p.Ser122Leu) rs746934495 0.00001
NM_001382430.1(AKT1):c.394G>A (p.Glu132Lys) rs1319030326 0.00001
NM_001382430.1(AKT1):c.430C>T (p.Arg144Cys) rs375990114 0.00001
NM_001382430.1(AKT1):c.431G>A (p.Arg144His) rs1060503071 0.00001
NM_001382430.1(AKT1):c.511G>A (p.Ala171Thr) rs1016707349 0.00001
NM_001382430.1(AKT1):c.520C>T (p.Arg174Cys) rs983007851 0.00001
NM_001382430.1(AKT1):c.521G>A (p.Arg174His) rs1200003171 0.00001
NM_001382430.1(AKT1):c.567+5G>T rs373741434 0.00001
NM_001382430.1(AKT1):c.665G>A (p.Arg222His) rs369698909 0.00001
NM_001382430.1(AKT1):c.721C>T (p.Arg241Trp) rs768606668 0.00001
NM_001382430.1(AKT1):c.746G>A (p.Arg249Gln) rs745809388 0.00001
NM_001382430.1(AKT1):c.763G>A (p.Ala255Thr) rs375395037 0.00001
NM_001382430.1(AKT1):c.797C>T (p.Ser266Leu) rs549083521 0.00001
NM_001382430.1(AKT1):c.907G>A (p.Gly303Ser) rs1360111387 0.00001
NC_000014.8:g.(?_105236678)_(105258980_?)dup
NC_000014.8:g.(?_105258915)_(105268803_?)dup
NC_000014.9:g.(?_104792588)_(104792643_?)dup
NC_000014.9:g.104775025_104775026insATGCCACCCCGTCCTGTAAAGCAGGGCTGGGTGAG
NC_000014.9:g.104780217dup rs34409589
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=) rs758651475
NM_001382430.1(AKT1):c.1009G>A (p.Val337Met) rs1247419183
NM_001382430.1(AKT1):c.1020C>G (p.Tyr340Ter)
NM_001382430.1(AKT1):c.1037G>A (p.Arg346His) rs1219649544
NM_001382430.1(AKT1):c.1052A>G (p.Asn351Ser)
NM_001382430.1(AKT1):c.106A>G (p.Ile36Val) rs781339141
NM_001382430.1(AKT1):c.1088T>C (p.Met363Thr) rs1892478123
NM_001382430.1(AKT1):c.1097T>C (p.Ile366Thr) rs1892477463
NM_001382430.1(AKT1):c.1099C>A (p.Arg367Ser) rs762705090
NM_001382430.1(AKT1):c.1108C>A (p.Arg370Ser)
NM_001382430.1(AKT1):c.1108C>T (p.Arg370Cys) rs549370342
NM_001382430.1(AKT1):c.1112C>T (p.Thr371Met) rs781388586
NM_001382430.1(AKT1):c.1117G>A (p.Gly373Ser)
NM_001382430.1(AKT1):c.1123G>A (p.Glu375Lys)
NM_001382430.1(AKT1):c.1130A>G (p.Lys377Arg) rs1480573852
NM_001382430.1(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_001382430.1(AKT1):c.1166A>C (p.Lys389Thr) rs1390801321
NM_001382430.1(AKT1):c.1173G>A (p.Arg391=) rs889505130
NM_001382430.1(AKT1):c.117G>A (p.Lys39=) rs1595251382
NM_001382430.1(AKT1):c.1189G>C (p.Glu397Gln) rs531850885
NM_001382430.1(AKT1):c.1190A>C (p.Glu397Ala)
NM_001382430.1(AKT1):c.1191G>T (p.Glu397Asp) rs1334042967
NM_001382430.1(AKT1):c.1195G>A (p.Ala399Thr) rs188580689
NM_001382430.1(AKT1):c.1216C>T (p.Arg406Cys) rs749544983
NM_001382430.1(AKT1):c.1217G>A (p.Arg406His)
NM_001382430.1(AKT1):c.1234G>A (p.Val412Met) rs1444891733
NM_001382430.1(AKT1):c.1242G>C (p.Gln414His) rs1555383354
NM_001382430.1(AKT1):c.1245C>G (p.His415Gln) rs758476416
NM_001382430.1(AKT1):c.125C>T (p.Pro42Leu)
NM_001382430.1(AKT1):c.1260+1G>C rs112117625
NM_001382430.1(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_001382430.1(AKT1):c.1267C>T (p.Pro423Ser)
NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr) rs1892344387
NM_001382430.1(AKT1):c.1292C>T (p.Ser431Leu)
NM_001382430.1(AKT1):c.1318G>A (p.Glu440Lys)
NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe)
NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser) rs1892340313
NM_001382430.1(AKT1):c.1357G>C (p.Asp453His)
NM_001382430.1(AKT1):c.1364-3C>T rs113777945
NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys)
NM_001382430.1(AKT1):c.1387A>G (p.Ser463Gly)
NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys) rs770370100
NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys)
NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser)
NM_001382430.1(AKT1):c.141A>T (p.Gln47His)
NM_001382430.1(AKT1):c.1440C>G (p.Ala480=) rs1892307322
NM_001382430.1(AKT1):c.148G>A (p.Ala50Thr)
NM_001382430.1(AKT1):c.161A>T (p.Asn54Ile)
NM_001382430.1(AKT1):c.16A>G (p.Ile6Val) rs1893685625
NM_001382430.1(AKT1):c.175+5G>A rs754417090
NM_001382430.1(AKT1):c.176-3C>G rs1401652672
NM_001382430.1(AKT1):c.176-3C>T
NM_001382430.1(AKT1):c.176-5C>A rs377076374
NM_001382430.1(AKT1):c.176-5C>G rs377076374
NM_001382430.1(AKT1):c.179G>A (p.Cys60Tyr) rs923841704
NM_001382430.1(AKT1):c.17T>C (p.Ile6Thr)
NM_001382430.1(AKT1):c.200G>A (p.Arg67Gln) rs1396308032
NM_001382430.1(AKT1):c.225C>G (p.Ile75Met) rs587778019
NM_001382430.1(AKT1):c.226C>T (p.Arg76Cys) rs1012676649
NM_001382430.1(AKT1):c.230G>T (p.Cys77Phe)
NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg) rs1057518602
NM_001382430.1(AKT1):c.253G>A (p.Glu85Lys) rs1566818890
NM_001382430.1(AKT1):c.257G>A (p.Arg86His) rs773971502
NM_001382430.1(AKT1):c.281A>C (p.Glu94Ala)
NM_001382430.1(AKT1):c.286C>T (p.Arg96Trp)
NM_001382430.1(AKT1):c.288-1G>C
NM_001382430.1(AKT1):c.288-28_288-9dup
NM_001382430.1(AKT1):c.288-4G>T rs778501455
NM_001382430.1(AKT1):c.288-9_288-8delinsGA rs1892668261
NM_001382430.1(AKT1):c.314C>G (p.Thr105Ser)
NM_001382430.1(AKT1):c.328C>T (p.Leu110Phe) rs1892663954
NM_001382430.1(AKT1):c.340GAG[3] (p.Glu117del) rs768025881
NM_001382430.1(AKT1):c.340GAG[5] (p.Glu117dup) rs768025881
NM_001382430.1(AKT1):c.340GAG[6] (p.Glu117_Met118insGluGlu)
NM_001382430.1(AKT1):c.349G>A (p.Glu117Lys) rs776345122
NM_001382430.1(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_001382430.1(AKT1):c.360C>A (p.Phe120Leu)
NM_001382430.1(AKT1):c.362G>T (p.Arg121Leu) rs1457484217
NM_001382430.1(AKT1):c.372_377del (p.Pro125_Ser126del)
NM_001382430.1(AKT1):c.377G>C (p.Ser126Thr) rs1892659749
NM_001382430.1(AKT1):c.383A>T (p.Asn128Ile)
NM_001382430.1(AKT1):c.415G>C (p.Ala139Pro) rs1566818045
NM_001382430.1(AKT1):c.416C>T (p.Ala139Val)
NM_001382430.1(AKT1):c.422C>T (p.Pro141Leu) rs2140921941
NM_001382430.1(AKT1):c.433G>A (p.Val145Met)
NM_001382430.1(AKT1):c.433G>C (p.Val145Leu)
NM_001382430.1(AKT1):c.458T>C (p.Leu153Pro)
NM_001382430.1(AKT1):c.47-4_47-3del rs1892956019
NM_001382430.1(AKT1):c.493A>G (p.Ile165Val) rs2140917455
NM_001382430.1(AKT1):c.493A>T (p.Ile165Phe)
NM_001382430.1(AKT1):c.4A>G (p.Ser2Gly) rs1566826869
NM_001382430.1(AKT1):c.512C>T (p.Ala171Val) rs768070795
NM_001382430.1(AKT1):c.515C>T (p.Thr172Ile) rs748789094
NM_001382430.1(AKT1):c.544AAG[1] (p.Lys183del) rs2140916645
NM_001382430.1(AKT1):c.545A>G (p.Lys182Arg) rs1555383695
NM_001382430.1(AKT1):c.55A>G (p.Ile19Val)
NM_001382430.1(AKT1):c.599G>A (p.Arg200His) rs1462219795
NM_001382430.1(AKT1):c.600C>T (p.Arg200=)
NM_001382430.1(AKT1):c.614C>G (p.Ser205Cys) rs1240566715
NM_001382430.1(AKT1):c.620A>T (p.His207Leu)
NM_001382430.1(AKT1):c.622C>G (p.Pro208Ala)
NM_001382430.1(AKT1):c.635C>G (p.Ala212Gly) rs1163499100
NM_001382430.1(AKT1):c.641A>G (p.Lys214Arg) rs2140910262
NM_001382430.1(AKT1):c.661G>A (p.Asp221Asn) rs762040581
NM_001382430.1(AKT1):c.662A>G (p.Asp221Gly)
NM_001382430.1(AKT1):c.68G>A (p.Arg23Gln) rs1892954317
NM_001382430.1(AKT1):c.692A>G (p.Asn231Ser) rs1595243377
NM_001382430.1(AKT1):c.699C>T (p.Gly233=)
NM_001382430.1(AKT1):c.702+5G>A
NM_001382430.1(AKT1):c.702+5G>T
NM_001382430.1(AKT1):c.719C>G (p.Ser240Cys) rs773520823
NM_001382430.1(AKT1):c.722G>A (p.Arg241Gln) rs1244832277
NM_001382430.1(AKT1):c.727C>T (p.Arg243Cys) rs1340970650
NM_001382430.1(AKT1):c.734T>G (p.Phe245Cys) rs2140907264
NM_001382430.1(AKT1):c.739G>A (p.Glu247Lys)
NM_001382430.1(AKT1):c.741G>C (p.Glu247Asp) rs1229752019
NM_001382430.1(AKT1):c.745C>T (p.Arg249Trp) rs1458420660
NM_001382430.1(AKT1):c.749C>T (p.Ala250Val) rs1892523027
NM_001382430.1(AKT1):c.760G>A (p.Gly254Ser)
NM_001382430.1(AKT1):c.770T>C (p.Ile257Thr) rs1555383511
NM_001382430.1(AKT1):c.796T>G (p.Ser266Ala) rs1892518764
NM_001382430.1(AKT1):c.799G>A (p.Glu267Lys) rs1892518022
NM_001382430.1(AKT1):c.817C>T (p.Arg273Trp) rs2140906502
NM_001382430.1(AKT1):c.818G>A (p.Arg273Gln) rs1424916218
NM_001382430.1(AKT1):c.828+5G>A rs1199214347
NM_001382430.1(AKT1):c.828+5G>C rs1199214347
NM_001382430.1(AKT1):c.828+6C>G rs1892515105
NM_001382430.1(AKT1):c.829-4C>T rs756663391
NM_001382430.1(AKT1):c.916A>G (p.Met306Val) rs1892503990
NM_001382430.1(AKT1):c.917T>C (p.Met306Thr) rs1555383471
NM_001382430.1(AKT1):c.92A>G (p.Asn31Ser)
NM_001382430.1(AKT1):c.954C>A (p.Pro318=) rs746944273
NM_001382430.1(AKT1):c.957+3G>A rs1219173005
NM_001382430.1(AKT1):c.957+3G>C
NM_001382430.1(AKT1):c.957+3G>T rs1219173005
NM_001382430.1(AKT1):c.957+6C>T
NM_001382430.1(AKT1):c.971A>G (p.Asn324Ser)
NM_001382430.1(AKT1):c.979G>A (p.Gly327Ser)
NM_001382430.1(AKT1):c.983G>A (p.Arg328His) rs1892486033
NM_001382430.1(AKT1):c.985G>A (p.Ala329Thr) rs2140902698

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