ClinVar Miner

List of variants in gene ESCO2 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1353+119C>G rs117073800 0.01520
NM_001017420.3(ESCO2):c.54-51T>A rs79896359 0.01519
NM_001017420.3(ESCO2):c.1354-227C>T rs117308787 0.01516
NM_001017420.3(ESCO2):c.1673+37A>G rs115427135 0.01506
NM_001017420.3(ESCO2):c.1263+232G>A rs148517121 0.01416
NM_001017420.3(ESCO2):c.1131+50G>C rs147574278 0.01415
NM_001017420.3(ESCO2):c.1353+108C>T rs138629233 0.01414
NM_001017420.3(ESCO2):c.955+191A>G rs111416798 0.01096
NM_001017420.3(ESCO2):c.861+200A>G rs112451767 0.00995
NM_001017420.3(ESCO2):c.861+267C>T rs113358024 0.00992
NM_001017420.3(ESCO2):c.1131+322C>T rs138429482 0.00948
NM_001017420.3(ESCO2):c.861+170T>G rs150499257 0.00530
NM_001017420.3(ESCO2):c.1264-130T>C rs112928602 0.00329
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001017420.3(ESCO2):c.862-25G>T rs192719924 0.00138
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) rs143346057 0.00067
NM_001017420.3(ESCO2):c.*34G>A rs182715200 0.00060
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg) rs143828675 0.00019
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001017420.3(ESCO2):c.1608T>C (p.Ser536=) rs767568754 0.00010
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001017420.3(ESCO2):c.1673+14T>C rs368116644 0.00006
NM_001017420.3(ESCO2):c.351A>G (p.Lys117=) rs139322666 0.00006
NM_001017420.3(ESCO2):c.192A>G (p.Glu64=) rs1302303260 0.00005
NM_001017420.3(ESCO2):c.393C>T (p.Val131=) rs552661510 0.00005
NM_001017420.3(ESCO2):c.777A>G (p.Gln259=) rs375210525 0.00005
NM_001017420.3(ESCO2):c.1673+8A>G rs112842216 0.00004
NM_001017420.3(ESCO2):c.18A>G (p.Pro6=) rs781698140 0.00004
NM_001017420.3(ESCO2):c.240G>A (p.Ala80=) rs758624389 0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001017420.3(ESCO2):c.1542C>T (p.Ser514=) rs570471995 0.00003
NM_001017420.3(ESCO2):c.1674-9_1674-7del rs778526413 0.00003
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=) rs146523589 0.00003
NM_001017420.3(ESCO2):c.1041G>A (p.Val347=) rs777703908 0.00002
NM_001017420.3(ESCO2):c.330A>G (p.Leu110=) rs760359460 0.00002
NM_001017420.3(ESCO2):c.447A>G (p.Gln149=) rs886062858 0.00002
NM_001017420.3(ESCO2):c.1014-8G>T rs1022789367 0.00001
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=) rs587783623 0.00001
NM_001017420.3(ESCO2):c.1134C>T (p.Asp378=) rs551083127 0.00001
NM_001017420.3(ESCO2):c.1158T>C (p.Ala386=) rs901221861 0.00001
NM_001017420.3(ESCO2):c.1266T>C (p.Gly422=) rs757868431 0.00001
NM_001017420.3(ESCO2):c.1284A>G (p.Val428=) rs1399232000 0.00001
NM_001017420.3(ESCO2):c.1290A>T (p.Ala430=) rs1484516561 0.00001
NM_001017420.3(ESCO2):c.1311C>T (p.Ile437=) rs748537541 0.00001
NM_001017420.3(ESCO2):c.1314G>A (p.Val438=) rs1362438428 0.00001
NM_001017420.3(ESCO2):c.1386A>G (p.Glu462=) rs765000674 0.00001
NM_001017420.3(ESCO2):c.1410T>C (p.Pro470=) rs1202724793 0.00001
NM_001017420.3(ESCO2):c.1458G>A (p.Lys486=) rs1200622636 0.00001
NM_001017420.3(ESCO2):c.1509C>T (p.Val503=) rs1266138155 0.00001
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=) rs1451610987 0.00001
NM_001017420.3(ESCO2):c.1674-8T>C rs1382297259 0.00001
NM_001017420.3(ESCO2):c.177G>A (p.Ala59=) rs199811077 0.00001
NM_001017420.3(ESCO2):c.222C>G (p.Gly74=) rs1256764677 0.00001
NM_001017420.3(ESCO2):c.228A>G (p.Pro76=) rs778841182 0.00001
NM_001017420.3(ESCO2):c.303G>A (p.Leu101=) rs373491890 0.00001
NM_001017420.3(ESCO2):c.339T>C (p.Asn113=) rs1428049563 0.00001
NM_001017420.3(ESCO2):c.456T>C (p.Tyr152=) rs148554778 0.00001
NM_001017420.3(ESCO2):c.489A>G (p.Arg163=) rs781481684 0.00001
NM_001017420.3(ESCO2):c.531G>A (p.Glu177=) rs1474515655 0.00001
NM_001017420.3(ESCO2):c.54-6T>C rs1041318463 0.00001
NM_001017420.3(ESCO2):c.546T>C (p.Cys182=) rs1417857032 0.00001
NM_001017420.3(ESCO2):c.549T>C (p.His183=) rs907259826 0.00001
NM_001017420.3(ESCO2):c.603A>G (p.Pro201=) rs774506097 0.00001
NM_001017420.3(ESCO2):c.651T>A (p.Ser217=) rs1804807094 0.00001
NM_001017420.3(ESCO2):c.666G>A (p.Ser222=) rs201608468 0.00001
NM_001017420.3(ESCO2):c.702A>G (p.Gln234=) rs775023172 0.00001
NM_001017420.3(ESCO2):c.732T>C (p.Ser244=) rs764226665 0.00001
NM_001017420.3(ESCO2):c.738A>G (p.Val246=) rs886044291 0.00001
NM_001017420.3(ESCO2):c.783A>G (p.Pro261=) rs1297703834 0.00001
NM_001017420.3(ESCO2):c.804G>A (p.Glu268=) rs1453219823 0.00001
NM_001017420.3(ESCO2):c.903T>G (p.Val301=) rs200848023 0.00001
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) rs184200865 0.00001
NM_001017420.3(ESCO2):c.972T>C (p.Thr324=) rs755411890 0.00001
NM_001017420.3(ESCO2):c.981A>C (p.Pro327=) rs755237600 0.00001
NM_001017420.3(ESCO2):c.1008A>G (p.Ser336=) rs2128953441
NM_001017420.3(ESCO2):c.1011A>G (p.Lys337=) rs2128953442
NM_001017420.3(ESCO2):c.1013+102dup rs200919382
NM_001017420.3(ESCO2):c.1013+15T>G
NM_001017420.3(ESCO2):c.1013+16_1013+18del
NM_001017420.3(ESCO2):c.1013+17T>C
NM_001017420.3(ESCO2):c.1013+19T>C
NM_001017420.3(ESCO2):c.1013+8T>A
NM_001017420.3(ESCO2):c.1013+8T>C rs749451553
NM_001017420.3(ESCO2):c.1014-11T>C rs2128954800
NM_001017420.3(ESCO2):c.1014-12T>A
NM_001017420.3(ESCO2):c.1014-13T>C
NM_001017420.3(ESCO2):c.1014-18T>C
NM_001017420.3(ESCO2):c.1014-19A>G
NM_001017420.3(ESCO2):c.1014-20_1014-17del
NM_001017420.3(ESCO2):c.1014-4C>T rs2128954803
NM_001017420.3(ESCO2):c.1014-9T>C
NM_001017420.3(ESCO2):c.1017T>C (p.Ser339=) rs2128954807
NM_001017420.3(ESCO2):c.102C>T (p.His34=) rs778264351
NM_001017420.3(ESCO2):c.1053C>T (p.Asn351=) rs1179332370
NM_001017420.3(ESCO2):c.1062A>G (p.Lys354=) rs2128954822
NM_001017420.3(ESCO2):c.1083T>C (p.Asn361=) rs2128954832
NM_001017420.3(ESCO2):c.1086T>A (p.Thr362=) rs2128954834
NM_001017420.3(ESCO2):c.1092C>G (p.Thr364=)
NM_001017420.3(ESCO2):c.1092C>T (p.Thr364=)
NM_001017420.3(ESCO2):c.1113A>G (p.Thr371=)
NM_001017420.3(ESCO2):c.1119C>T (p.Asp373=) rs1207324551
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=) rs140062105
NM_001017420.3(ESCO2):c.1128C>T (p.Ile376=)
NM_001017420.3(ESCO2):c.1131+17C>G
NM_001017420.3(ESCO2):c.1131+17C>T
NM_001017420.3(ESCO2):c.1132-12C>T
NM_001017420.3(ESCO2):c.1132-13C>A
NM_001017420.3(ESCO2):c.1132-14C>A
NM_001017420.3(ESCO2):c.1132-14C>T
NM_001017420.3(ESCO2):c.1132-288A>C rs149299120
NM_001017420.3(ESCO2):c.1132-5T>G
NM_001017420.3(ESCO2):c.1132-7A>C rs80359862
NM_001017420.3(ESCO2):c.1132-7A>T rs80359862
NM_001017420.3(ESCO2):c.1140T>C (p.Gly380=)
NM_001017420.3(ESCO2):c.1152T>C (p.Phe384=)
NM_001017420.3(ESCO2):c.1155G>A (p.Gly385=)
NM_001017420.3(ESCO2):c.1167C>T (p.Cys389=)
NM_001017420.3(ESCO2):c.1200C>T (p.Asn400=) rs766723444
NM_001017420.3(ESCO2):c.1206A>G (p.Glu402=) rs2128955166
NM_001017420.3(ESCO2):c.1209T>C (p.Asp403=)
NM_001017420.3(ESCO2):c.1230T>C (p.His410=) rs2128955176
NM_001017420.3(ESCO2):c.123T>C (p.Asp41=)
NM_001017420.3(ESCO2):c.1243C>T (p.Leu415=) rs2128955184
NM_001017420.3(ESCO2):c.1254C>A (p.Ile418=) rs1330059228
NM_001017420.3(ESCO2):c.1254C>T (p.Ile418=)
NM_001017420.3(ESCO2):c.1260T>C (p.Tyr420=)
NM_001017420.3(ESCO2):c.1263+11A>G
NM_001017420.3(ESCO2):c.1263+14_1263+15del
NM_001017420.3(ESCO2):c.1263+17T>G
NM_001017420.3(ESCO2):c.1263+18C>T
NM_001017420.3(ESCO2):c.1264-10C>A
NM_001017420.3(ESCO2):c.1264-13T>C
NM_001017420.3(ESCO2):c.1264-16T>C
NM_001017420.3(ESCO2):c.1264-17T>C
NM_001017420.3(ESCO2):c.1264-20C>G rs2128955825
NM_001017420.3(ESCO2):c.1264-4G>A rs2128955838
NM_001017420.3(ESCO2):c.1264-4G>T
NM_001017420.3(ESCO2):c.1264-6T>C rs2128955836
NM_001017420.3(ESCO2):c.1264-7T>C
NM_001017420.3(ESCO2):c.1264-8T>A
NM_001017420.3(ESCO2):c.1275A>G (p.Lys425=)
NM_001017420.3(ESCO2):c.1281T>C (p.Arg427=) rs1805187006
NM_001017420.3(ESCO2):c.1326A>G (p.Pro442=)
NM_001017420.3(ESCO2):c.1329T>C (p.His443=)
NM_001017420.3(ESCO2):c.1335A>G (p.Pro445=) rs1805188265
NM_001017420.3(ESCO2):c.1338C>T (p.Ser446=)
NM_001017420.3(ESCO2):c.1344T>C (p.Ala448=)
NM_001017420.3(ESCO2):c.1347C>T (p.Ile449=)
NM_001017420.3(ESCO2):c.1353+10A>G
NM_001017420.3(ESCO2):c.1353+12T>A
NM_001017420.3(ESCO2):c.1353+13A>G
NM_001017420.3(ESCO2):c.1354-18G>C
NM_001017420.3(ESCO2):c.1354-292G>A rs115906199
NM_001017420.3(ESCO2):c.1354-5A>G
NM_001017420.3(ESCO2):c.1354-8A>C
NM_001017420.3(ESCO2):c.135A>G (p.Glu45=)
NM_001017420.3(ESCO2):c.138C>T (p.Asn46=) rs2128951033
NM_001017420.3(ESCO2):c.1398G>A (p.Gln466=) rs1343513307
NM_001017420.3(ESCO2):c.1407T>G (p.Val469=)
NM_001017420.3(ESCO2):c.1410T>G (p.Pro470=)
NM_001017420.3(ESCO2):c.1413A>G (p.Lys471=)
NM_001017420.3(ESCO2):c.1419A>G (p.Pro473=)
NM_001017420.3(ESCO2):c.141G>T (p.Leu47=)
NM_001017420.3(ESCO2):c.1437T>C (p.Phe479=)
NM_001017420.3(ESCO2):c.1449T>C (p.Ser483=) rs746274844
NM_001017420.3(ESCO2):c.144T>C (p.His48=)
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=) rs554005632
NM_001017420.3(ESCO2):c.1470G>C (p.Gly490=) rs554005632
NM_001017420.3(ESCO2):c.1470G>T (p.Gly490=) rs554005632
NM_001017420.3(ESCO2):c.147C>T (p.Cys49=)
NM_001017420.3(ESCO2):c.1488C>T (p.Pro496=)
NM_001017420.3(ESCO2):c.1497+12T>A
NM_001017420.3(ESCO2):c.1497+14G>T
NM_001017420.3(ESCO2):c.1497+18T>C
NM_001017420.3(ESCO2):c.1497+8A>G rs1805208329
NM_001017420.3(ESCO2):c.1498-10A>G
NM_001017420.3(ESCO2):c.1498-19C>G
NM_001017420.3(ESCO2):c.1498-4G>A rs2128957608
NM_001017420.3(ESCO2):c.1498-5T>C rs2128957607
NM_001017420.3(ESCO2):c.1498-6T>C rs373104864
NM_001017420.3(ESCO2):c.1498-7A>G
NM_001017420.3(ESCO2):c.1509C>G (p.Val503=)
NM_001017420.3(ESCO2):c.150T>G (p.Ser50=) rs772392422
NM_001017420.3(ESCO2):c.1512G>A (p.Leu504=) rs755764215
NM_001017420.3(ESCO2):c.156A>G (p.Gln52=)
NM_001017420.3(ESCO2):c.1581A>G (p.Val527=) rs993815914
NM_001017420.3(ESCO2):c.1584A>G (p.Pro528=) rs2128957644
NM_001017420.3(ESCO2):c.159G>A (p.Glu53=) rs772268185
NM_001017420.3(ESCO2):c.15T>A (p.Thr5=)
NM_001017420.3(ESCO2):c.1626A>G (p.Arg542=)
NM_001017420.3(ESCO2):c.1632G>A (p.Lys544=) rs2128957668
NM_001017420.3(ESCO2):c.1641G>A (p.Lys547=)
NM_001017420.3(ESCO2):c.1653A>G (p.Arg551=)
NM_001017420.3(ESCO2):c.1662T>G (p.Val554=)
NM_001017420.3(ESCO2):c.1668C>G (p.Thr556=)
NM_001017420.3(ESCO2):c.1671C>G (p.Leu557=)
NM_001017420.3(ESCO2):c.1673+11A>G
NM_001017420.3(ESCO2):c.1673+11A>T
NM_001017420.3(ESCO2):c.1673+16G>A
NM_001017420.3(ESCO2):c.1673+17A>G
NM_001017420.3(ESCO2):c.1673+18T>A
NM_001017420.3(ESCO2):c.1673+7A>G rs2128957694
NM_001017420.3(ESCO2):c.1674-11T>G
NM_001017420.3(ESCO2):c.1674-14T>A
NM_001017420.3(ESCO2):c.1674-5T>A rs2128959117
NM_001017420.3(ESCO2):c.1674-7_1674-6del
NM_001017420.3(ESCO2):c.1674-8T>G
NM_001017420.3(ESCO2):c.1680C>T (p.Cys560=) rs2128959121
NM_001017420.3(ESCO2):c.1704C>T (p.Ser568=) rs1585413187
NM_001017420.3(ESCO2):c.1728C>T (p.Asp576=)
NM_001017420.3(ESCO2):c.1734A>G (p.Thr578=) rs2128959136
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) rs1585413228
NM_001017420.3(ESCO2):c.177G>T (p.Ala59=) rs199811077
NM_001017420.3(ESCO2):c.1785C>A (p.Leu595=)
NM_001017420.3(ESCO2):c.1785C>T (p.Leu595=) rs375906405
NM_001017420.3(ESCO2):c.1788A>T (p.Val596=)
NM_001017420.3(ESCO2):c.1803T>C (p.Ser601=)
NM_001017420.3(ESCO2):c.198T>C (p.Asn66=) rs2128951058
NM_001017420.3(ESCO2):c.202C>T (p.Leu68=)
NM_001017420.3(ESCO2):c.21G>A (p.Arg7=)
NM_001017420.3(ESCO2):c.240G>T (p.Ala80=)
NM_001017420.3(ESCO2):c.252A>G (p.Val84=) rs1804794716
NM_001017420.3(ESCO2):c.264C>T (p.Asn88=) rs1585389929
NM_001017420.3(ESCO2):c.279C>T (p.Tyr93=) rs2128951094
NM_001017420.3(ESCO2):c.27G>A (p.Arg9=)
NM_001017420.3(ESCO2):c.282C>T (p.Leu94=)
NM_001017420.3(ESCO2):c.30G>A (p.Lys10=)
NM_001017420.3(ESCO2):c.315T>C (p.Ser105=)
NM_001017420.3(ESCO2):c.354T>G (p.Ser118=)
NM_001017420.3(ESCO2):c.360C>T (p.Pro120=)
NM_001017420.3(ESCO2):c.390A>T (p.Pro130=) rs777418428
NM_001017420.3(ESCO2):c.393C>A (p.Val131=) rs552661510
NM_001017420.3(ESCO2):c.393C>G (p.Val131=) rs552661510
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=) rs767762209
NM_001017420.3(ESCO2):c.411C>T (p.Asn137=) rs2128951158
NM_001017420.3(ESCO2):c.420A>C (p.Pro140=)
NM_001017420.3(ESCO2):c.438T>G (p.Ala146=) rs1585390151
NM_001017420.3(ESCO2):c.441G>A (p.Lys147=)
NM_001017420.3(ESCO2):c.453G>A (p.Lys151=)
NM_001017420.3(ESCO2):c.462C>T (p.His154=)
NM_001017420.3(ESCO2):c.474A>T (p.Val158=)
NM_001017420.3(ESCO2):c.498G>A (p.Lys166=)
NM_001017420.3(ESCO2):c.510G>T (p.Val170=) rs112031297
NM_001017420.3(ESCO2):c.513C>A (p.Ile171=)
NM_001017420.3(ESCO2):c.519G>A (p.Lys173=)
NM_001017420.3(ESCO2):c.51C>T (p.Asp17=) rs906927109
NM_001017420.3(ESCO2):c.53+20T>A
NM_001017420.3(ESCO2):c.53+9C>A
NM_001017420.3(ESCO2):c.53+9C>G
NM_001017420.3(ESCO2):c.54-14G>A
NM_001017420.3(ESCO2):c.54-16T>C
NM_001017420.3(ESCO2):c.54-16_54-15del
NM_001017420.3(ESCO2):c.54-18C>T
NM_001017420.3(ESCO2):c.54-4A>G rs971540220
NM_001017420.3(ESCO2):c.54-5T>C rs2128951006
NM_001017420.3(ESCO2):c.567C>T (p.Ser189=)
NM_001017420.3(ESCO2):c.570T>C (p.Asn190=) rs1585390304
NM_001017420.3(ESCO2):c.585G>A (p.Leu195=)
NM_001017420.3(ESCO2):c.591A>G (p.Gln197=)
NM_001017420.3(ESCO2):c.612A>G (p.Thr204=)
NM_001017420.3(ESCO2):c.615C>A (p.Leu205=)
NM_001017420.3(ESCO2):c.627A>G (p.Ala209=)
NM_001017420.3(ESCO2):c.630A>G (p.Ala210=)
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) rs587783624
NM_001017420.3(ESCO2):c.657T>C (p.Leu219=)
NM_001017420.3(ESCO2):c.660A>G (p.Arg220=)
NM_001017420.3(ESCO2):c.663A>G (p.Lys221=) rs2128951251
NM_001017420.3(ESCO2):c.666G>T (p.Ser222=)
NM_001017420.3(ESCO2):c.670C>T (p.Leu224=) rs942483627
NM_001017420.3(ESCO2):c.687A>C (p.Ser229=)
NM_001017420.3(ESCO2):c.699C>T (p.Thr233=) rs2128951265
NM_001017420.3(ESCO2):c.729T>C (p.Asp243=) rs2128951279
NM_001017420.3(ESCO2):c.756A>G (p.Lys252=) rs1563469163
NM_001017420.3(ESCO2):c.759A>G (p.Lys253=)
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=) rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=) rs372611248
NM_001017420.3(ESCO2):c.768G>T (p.Ala256=) rs372611248
NM_001017420.3(ESCO2):c.76C>T (p.Leu26=) rs2128951011
NM_001017420.3(ESCO2):c.771A>G (p.Thr257=)
NM_001017420.3(ESCO2):c.774G>A (p.Arg258=) rs1296548612
NM_001017420.3(ESCO2):c.789C>T (p.Cys263=) rs2128951319
NM_001017420.3(ESCO2):c.795C>A (p.Val265=) rs2128951323
NM_001017420.3(ESCO2):c.798A>G (p.Leu266=) rs2128951327
NM_001017420.3(ESCO2):c.801A>G (p.Glu267=) rs532061731
NM_001017420.3(ESCO2):c.808T>C (p.Leu270=)
NM_001017420.3(ESCO2):c.81T>C (p.Phe27=)
NM_001017420.3(ESCO2):c.837T>C (p.Ser279=)
NM_001017420.3(ESCO2):c.84A>T (p.Pro28=) rs1347550530
NM_001017420.3(ESCO2):c.861+19C>T
NM_001017420.3(ESCO2):c.862-10C>T rs1585393575
NM_001017420.3(ESCO2):c.862-11C>T
NM_001017420.3(ESCO2):c.862-14A>T
NM_001017420.3(ESCO2):c.862-15T>A rs780447242
NM_001017420.3(ESCO2):c.862-15T>G
NM_001017420.3(ESCO2):c.862-5_862-4del rs2128952229
NM_001017420.3(ESCO2):c.862-8A>G
NM_001017420.3(ESCO2):c.873T>C (p.Asp291=)
NM_001017420.3(ESCO2):c.876C>T (p.Asp292=)
NM_001017420.3(ESCO2):c.87A>G (p.Ser29=) rs2128951016
NM_001017420.3(ESCO2):c.87A>T (p.Ser29=)
NM_001017420.3(ESCO2):c.882T>C (p.Val294=) rs752508730
NM_001017420.3(ESCO2):c.885T>C (p.Ser295=) rs2128952248
NM_001017420.3(ESCO2):c.885T>G (p.Ser295=)
NM_001017420.3(ESCO2):c.897T>C (p.His299=) rs2128952253
NM_001017420.3(ESCO2):c.903T>C (p.Val301=) rs200848023
NM_001017420.3(ESCO2):c.918T>A (p.Ala306=)
NM_001017420.3(ESCO2):c.936T>C (p.Ser312=) rs375459354
NM_001017420.3(ESCO2):c.951G>A (p.Lys317=)
NM_001017420.3(ESCO2):c.955+10A>G rs1421884058
NM_001017420.3(ESCO2):c.955+12C>A
NM_001017420.3(ESCO2):c.955+14C>T
NM_001017420.3(ESCO2):c.955+15G>A
NM_001017420.3(ESCO2):c.955+15G>C
NM_001017420.3(ESCO2):c.955+17A>C
NM_001017420.3(ESCO2):c.955+17A>G
NM_001017420.3(ESCO2):c.955+19G>A
NM_001017420.3(ESCO2):c.955+21del
NM_001017420.3(ESCO2):c.955+7G>A
NM_001017420.3(ESCO2):c.955+7_955+8del rs555057427
NM_001017420.3(ESCO2):c.956-15T>C
NM_001017420.3(ESCO2):c.956-17G>A
NM_001017420.3(ESCO2):c.956-20_956-18del
NM_001017420.3(ESCO2):c.956-5A>C rs2128953415
NM_001017420.3(ESCO2):c.969C>A (p.Ser323=)
NM_001017420.3(ESCO2):c.993A>G (p.Ala331=) rs2128953433
NM_001017420.3(ESCO2):c.999A>G (p.Ser333=) rs2128953434

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