ClinVar Miner

List of variants in gene ESCO2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
Download table as spreadsheet
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.1673+37A>G rs115427135 0.01506
NM_001017420.3(ESCO2):c.1354-227C>T rs117308787 0.01466
NM_001017420.3(ESCO2):c.1263+232G>A rs148517121 0.01416
NM_001017420.3(ESCO2):c.1353+108C>T rs138629233 0.01414
NM_001017420.3(ESCO2):c.1131+50G>C rs147574278 0.01324
NM_001017420.3(ESCO2):c.955+191A>G rs111416798 0.01004
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 0.00322
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00315
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys) rs144288263 0.00277
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln) rs1052492 0.00217
NM_001017420.3(ESCO2):c.862-25G>T rs192719924 0.00171
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp) rs143539004 0.00079
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 0.00059
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001017420.3(ESCO2):c.*96C>T rs118103454 0.00039
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) rs149917909 0.00038
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg) rs143828675 0.00023
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969 0.00021
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001017420.3(ESCO2):c.*397A>G rs529251667 0.00013
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) rs143530690 0.00012
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001017420.3(ESCO2):c.569A>G (p.Asn190Ser) rs770166633 0.00009
NM_001017420.3(ESCO2):c.1264-17T>C rs537884891 0.00008
NM_001017420.3(ESCO2):c.1608T>C (p.Ser536=) rs767568754 0.00008
NM_001017420.3(ESCO2):c.351A>G (p.Lys117=) rs139322666 0.00008
NM_001017420.3(ESCO2):c.393C>T (p.Val131=) rs552661510 0.00006
NM_001017420.3(ESCO2):c.1673+14T>C rs368116644 0.00005
NM_001017420.3(ESCO2):c.192A>G (p.Glu64=) rs1302303260 0.00005
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00005
NM_001017420.3(ESCO2):c.777A>G (p.Gln259=) rs375210525 0.00005
NM_001017420.3(ESCO2):c.1338C>T (p.Ser446=) rs765473703 0.00004
NM_001017420.3(ESCO2):c.1673+8A>G rs112842216 0.00004
NM_001017420.3(ESCO2):c.240G>A (p.Ala80=) rs758624389 0.00004
NM_001017420.3(ESCO2):c.1041G>A (p.Val347=) rs777703908 0.00003
NM_001017420.3(ESCO2):c.1542C>T (p.Ser514=) rs570471995 0.00003
NM_001017420.3(ESCO2):c.177G>A (p.Ala59=) rs199811077 0.00003
NM_001017420.3(ESCO2):c.18A>G (p.Pro6=) rs781698140 0.00003
NM_001017420.3(ESCO2):c.612A>G (p.Thr204=) rs759703710 0.00003
NM_001017420.3(ESCO2):c.1329T>C (p.His443=) rs376887269 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.684G>A (p.Pro228=) rs146523589 0.00002
NM_001017420.3(ESCO2):c.732T>C (p.Ser244=) rs764226665 0.00002
NM_001017420.3(ESCO2):c.955+14C>T rs1028476886 0.00002
NM_001017420.3(ESCO2):c.1011A>G (p.Lys337=) rs2128953442 0.00001
NM_001017420.3(ESCO2):c.1013+17T>C rs369933331 0.00001
NM_001017420.3(ESCO2):c.1013+19T>C rs746810216 0.00001
NM_001017420.3(ESCO2):c.1013+8T>C rs749451553 0.00001
NM_001017420.3(ESCO2):c.1014-20_1014-17del rs749070017 0.00001
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.1083T>C (p.Asn361=) rs2128954832 0.00001
NM_001017420.3(ESCO2):c.1131+17C>T rs761018373 0.00001
NM_001017420.3(ESCO2):c.1132-5T>G rs886134261 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.1209T>C (p.Asp403=) rs573727219 0.00001
NM_001017420.3(ESCO2):c.1263+11A>G rs553566322 0.00001
NM_001017420.3(ESCO2):c.1263+18C>T rs745393450 0.00001
NM_001017420.3(ESCO2):c.1264-10C>A rs1405299373 0.00001
NM_001017420.3(ESCO2):c.1264-16T>C rs374472539 0.00001
NM_001017420.3(ESCO2):c.1266T>C (p.Gly422=) rs757868431 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.1354-5A>G rs776954524 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.1470G>A (p.Gly490=) rs554005632 0.00001
NM_001017420.3(ESCO2):c.1497+18T>C rs1308753331 0.00001
NM_001017420.3(ESCO2):c.1498-6T>C rs373104864 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.1641G>A (p.Lys547=) rs763734266 0.00001
NM_001017420.3(ESCO2):c.1653A>G (p.Arg551=) rs957504721 0.00001
NM_001017420.3(ESCO2):c.1674-8T>C rs1382297259 0.00001
NM_001017420.3(ESCO2):c.1674-8T>G rs1382297259 0.00001
NM_001017420.3(ESCO2):c.1674-9_1674-7del rs778526413 0.00001
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) rs1585413228 0.00001
NM_001017420.3(ESCO2):c.21G>A (p.Arg7=) rs1045389398 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.282C>T (p.Leu94=) rs769745092 0.00001
NM_001017420.3(ESCO2):c.303G>A (p.Leu101=) rs373491890 0.00001
NM_001017420.3(ESCO2):c.315T>C (p.Ser105=) rs1042167898 0.00001
NM_001017420.3(ESCO2):c.339T>C (p.Asn113=) rs1428049563 0.00001
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 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.54-4A>G rs971540220 0.00001
NM_001017420.3(ESCO2):c.54-5T>C rs2128951006 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.567C>T (p.Ser189=) rs1804805019 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.738A>G (p.Val246=) rs886044291 0.00001
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile) rs897825817 0.00001
NM_001017420.3(ESCO2):c.783A>G (p.Pro261=) rs1297703834 0.00001
NM_001017420.3(ESCO2):c.801A>G (p.Glu267=) rs532061731 0.00001
NM_001017420.3(ESCO2):c.804G>A (p.Glu268=) rs1453219823 0.00001
NM_001017420.3(ESCO2):c.862-15T>A rs780447242 0.00001
NM_001017420.3(ESCO2):c.903T>G (p.Val301=) rs200848023 0.00001
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln) rs767444182 0.00001
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) rs184200865 0.00001
NM_001017420.3(ESCO2):c.956-15T>C rs1485907673 0.00001
NM_001017420.3(ESCO2):c.969C>A (p.Ser323=) rs1236225854 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.1013+102dup rs200919382
NM_001017420.3(ESCO2):c.1013+15T>G
NM_001017420.3(ESCO2):c.1013+16_1013+18del rs2486644922
NM_001017420.3(ESCO2):c.1013+8T>A rs749451553
NM_001017420.3(ESCO2):c.1014-11T>C rs2128954800
NM_001017420.3(ESCO2):c.1014-12T>A rs1013279534
NM_001017420.3(ESCO2):c.1014-13T>C rs1563474628
NM_001017420.3(ESCO2):c.1014-18T>C
NM_001017420.3(ESCO2):c.1014-19A>G rs1805081701
NM_001017420.3(ESCO2):c.1014-4C>T rs2128954803
NM_001017420.3(ESCO2):c.1014-9T>C rs1805082187
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.1086T>A (p.Thr362=) rs2128954834
NM_001017420.3(ESCO2):c.1092C>G (p.Thr364=) rs2486654315
NM_001017420.3(ESCO2):c.1092C>T (p.Thr364=) rs2486654315
NM_001017420.3(ESCO2):c.1113A>G (p.Thr371=) rs2486654392
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=) rs140062105
NM_001017420.3(ESCO2):c.1131+17C>G rs761018373
NM_001017420.3(ESCO2):c.1132-12C>T rs2486656848
NM_001017420.3(ESCO2):c.1132-13C>A rs1805108541
NM_001017420.3(ESCO2):c.1132-14C>A rs777788213
NM_001017420.3(ESCO2):c.1132-14C>T rs777788213
NM_001017420.3(ESCO2):c.1132-288A>C rs149299120
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=) rs1805109419
NM_001017420.3(ESCO2):c.1152T>C (p.Phe384=) rs2486656983
NM_001017420.3(ESCO2):c.1155G>A (p.Gly385=) rs761120430
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.1230T>C (p.His410=) rs2128955176
NM_001017420.3(ESCO2):c.123T>C (p.Asp41=) rs2486626362
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=) rs1330059228
NM_001017420.3(ESCO2):c.1260T>C (p.Tyr420=) rs1031221218
NM_001017420.3(ESCO2):c.1263+14_1263+15del rs761281935
NM_001017420.3(ESCO2):c.1263+17T>G rs2486657488
NM_001017420.3(ESCO2):c.1264-13T>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 rs2128955838
NM_001017420.3(ESCO2):c.1264-6T>C rs2128955836
NM_001017420.3(ESCO2):c.1264-7T>C rs778840836
NM_001017420.3(ESCO2):c.1264-8T>A rs757122359
NM_001017420.3(ESCO2):c.1275A>G (p.Lys425=) rs1185125819
NM_001017420.3(ESCO2):c.1281T>C (p.Arg427=) rs1805187006
NM_001017420.3(ESCO2):c.1284A>G (p.Val428=) rs1399232000
NM_001017420.3(ESCO2):c.1326A>G (p.Pro442=) rs1805187998
NM_001017420.3(ESCO2):c.1335A>G (p.Pro445=) rs1805188265
NM_001017420.3(ESCO2):c.1344T>C (p.Ala448=) rs1402053696
NM_001017420.3(ESCO2):c.1347C>T (p.Ile449=) rs2486663882
NM_001017420.3(ESCO2):c.1353+10A>G rs1006841523
NM_001017420.3(ESCO2):c.1353+12T>A rs2486663933
NM_001017420.3(ESCO2):c.1353+13A>G rs2486663939
NM_001017420.3(ESCO2):c.1354-18G>C rs80359865
NM_001017420.3(ESCO2):c.1354-292G>A rs115906199
NM_001017420.3(ESCO2):c.1354-8A>C
NM_001017420.3(ESCO2):c.135A>G (p.Glu45=) rs1804790876
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=) rs1585403933
NM_001017420.3(ESCO2):c.1410T>G (p.Pro470=) rs1202724793
NM_001017420.3(ESCO2):c.1413A>G (p.Lys471=) rs2486665716
NM_001017420.3(ESCO2):c.1419A>G (p.Pro473=)
NM_001017420.3(ESCO2):c.141G>T (p.Leu47=) rs2486626411
NM_001017420.3(ESCO2):c.1437T>C (p.Phe479=) rs1221060352
NM_001017420.3(ESCO2):c.1449T>C (p.Ser483=) rs746274844
NM_001017420.3(ESCO2):c.144T>C (p.His48=) rs2486626414
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=) rs201989984
NM_001017420.3(ESCO2):c.1488C>T (p.Pro496=) rs1805207714
NM_001017420.3(ESCO2):c.1497+12T>A rs2486666144
NM_001017420.3(ESCO2):c.1497+14G>T rs1000838744
NM_001017420.3(ESCO2):c.1497+8A>G rs1805208329
NM_001017420.3(ESCO2):c.1498-10A>G rs1805376499
NM_001017420.3(ESCO2):c.1498-19C>G rs1444168101
NM_001017420.3(ESCO2):c.1498-4G>A rs2128957608
NM_001017420.3(ESCO2):c.1498-5T>C rs2128957607
NM_001017420.3(ESCO2):c.1498-7A>G rs1425373318
NM_001017420.3(ESCO2):c.1509C>G (p.Val503=) rs1266138155
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=) rs950912243
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=) rs1804769584
NM_001017420.3(ESCO2):c.1626A>G (p.Arg542=) rs2486679737
NM_001017420.3(ESCO2):c.1632G>A (p.Lys544=) rs2128957668
NM_001017420.3(ESCO2):c.1662T>G (p.Val554=) rs2486679923
NM_001017420.3(ESCO2):c.1668C>G (p.Thr556=) rs755021313
NM_001017420.3(ESCO2):c.1671C>G (p.Leu557=) rs2486679999
NM_001017420.3(ESCO2):c.1673+11A>G rs2486680051
NM_001017420.3(ESCO2):c.1673+11A>T rs2486680051
NM_001017420.3(ESCO2):c.1673+16G>A rs770123296
NM_001017420.3(ESCO2):c.1673+17A>G rs1805383944
NM_001017420.3(ESCO2):c.1673+18T>A rs1436199958
NM_001017420.3(ESCO2):c.1673+7A>G rs2128957694
NM_001017420.3(ESCO2):c.1674-11T>G rs1478230133
NM_001017420.3(ESCO2):c.1674-14T>A rs1805490908
NM_001017420.3(ESCO2):c.1674-5T>A rs2128959117
NM_001017420.3(ESCO2):c.1674-7_1674-6del rs2486689560
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=) rs2486689733
NM_001017420.3(ESCO2):c.1734A>G (p.Thr578=) rs2128959136
NM_001017420.3(ESCO2):c.177G>T (p.Ala59=) rs199811077
NM_001017420.3(ESCO2):c.1785C>A (p.Leu595=) rs375906405
NM_001017420.3(ESCO2):c.1785C>T (p.Leu595=) rs375906405
NM_001017420.3(ESCO2):c.1788A>T (p.Val596=) rs2486689916
NM_001017420.3(ESCO2):c.1803T>C (p.Ser601=) rs2486689931
NM_001017420.3(ESCO2):c.198T>C (p.Asn66=) rs2128951058
NM_001017420.3(ESCO2):c.202C>T (p.Leu68=) rs2486626659
NM_001017420.3(ESCO2):c.240G>T (p.Ala80=) rs758624389
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=) rs2486624257
NM_001017420.3(ESCO2):c.30G>A (p.Lys10=) rs1359529272
NM_001017420.3(ESCO2):c.354T>G (p.Ser118=) rs2486627336
NM_001017420.3(ESCO2):c.360C>T (p.Pro120=) rs758575619
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=) rs2486627684
NM_001017420.3(ESCO2):c.438T>G (p.Ala146=) rs1585390151
NM_001017420.3(ESCO2):c.441G>A (p.Lys147=) rs2486627768
NM_001017420.3(ESCO2):c.453G>A (p.Lys151=) rs2486627831
NM_001017420.3(ESCO2):c.462C>T (p.His154=) rs763597704
NM_001017420.3(ESCO2):c.474A>T (p.Val158=) rs2128951186
NM_001017420.3(ESCO2):c.498G>A (p.Lys166=) rs2486628014
NM_001017420.3(ESCO2):c.510G>T (p.Val170=) rs112031297
NM_001017420.3(ESCO2):c.513C>A (p.Ile171=) rs2486628093
NM_001017420.3(ESCO2):c.519G>A (p.Lys173=) rs746522991
NM_001017420.3(ESCO2):c.51C>T (p.Asp17=) rs906927109
NM_001017420.3(ESCO2):c.53+20T>A rs1240857965
NM_001017420.3(ESCO2):c.53+9C>A rs746778204
NM_001017420.3(ESCO2):c.53+9C>G rs746778204
NM_001017420.3(ESCO2):c.54-14G>A rs1336100487
NM_001017420.3(ESCO2):c.54-14_54-11del rs569042315
NM_001017420.3(ESCO2):c.54-16T>C rs1804788218
NM_001017420.3(ESCO2):c.54-16_54-15del rs2486626036
NM_001017420.3(ESCO2):c.54-18C>T rs2486626034
NM_001017420.3(ESCO2):c.570T>C (p.Asn190=) rs1585390304
NM_001017420.3(ESCO2):c.585G>A (p.Leu195=) rs2486628334
NM_001017420.3(ESCO2):c.591A>G (p.Gln197=) rs1290204544
NM_001017420.3(ESCO2):c.615C>A (p.Leu205=) rs2486628451
NM_001017420.3(ESCO2):c.627A>G (p.Ala209=) rs752931373
NM_001017420.3(ESCO2):c.630A>G (p.Ala210=) rs2486628497
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) rs587783624
NM_001017420.3(ESCO2):c.657T>C (p.Leu219=) rs2486628637
NM_001017420.3(ESCO2):c.660A>G (p.Arg220=) rs2486628647
NM_001017420.3(ESCO2):c.663A>G (p.Lys221=) rs2128951251
NM_001017420.3(ESCO2):c.666G>T (p.Ser222=) rs201608468
NM_001017420.3(ESCO2):c.670C>T (p.Leu224=) rs942483627
NM_001017420.3(ESCO2):c.687A>C (p.Ser229=) rs2486628754
NM_001017420.3(ESCO2):c.699C>T (p.Thr233=) rs2128951265
NM_001017420.3(ESCO2):c.702A>G (p.Gln234=) rs775023172
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=) rs2486629037
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=) rs2486629134
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.808T>C (p.Leu270=) rs986679958
NM_001017420.3(ESCO2):c.81T>C (p.Phe27=) rs2486626199
NM_001017420.3(ESCO2):c.834C>T (p.Ser278=) rs966638854
NM_001017420.3(ESCO2):c.837T>C (p.Ser279=) rs2486629388
NM_001017420.3(ESCO2):c.84A>T (p.Pro28=) rs1347550530
NM_001017420.3(ESCO2):c.861+19C>T rs1563469318
NM_001017420.3(ESCO2):c.861+1G>A rs1804814100
NM_001017420.3(ESCO2):c.862-10C>T rs1585393575
NM_001017420.3(ESCO2):c.862-11C>T rs747070612
NM_001017420.3(ESCO2):c.862-14A>T rs1458665686
NM_001017420.3(ESCO2):c.862-15T>G rs780447242
NM_001017420.3(ESCO2):c.862-5_862-4del rs2128952229
NM_001017420.3(ESCO2):c.862-8A>G rs1384653546
NM_001017420.3(ESCO2):c.873T>C (p.Asp291=) rs2486637154
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=) rs2128951016
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=) rs2128952248
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=) rs1804894304
NM_001017420.3(ESCO2):c.936T>C (p.Ser312=) rs375459354
NM_001017420.3(ESCO2):c.940G>A (p.Gly314Ser)
NM_001017420.3(ESCO2):c.951G>A (p.Lys317=) rs1247427174
NM_001017420.3(ESCO2):c.955+10A>G rs1421884058
NM_001017420.3(ESCO2):c.955+12C>A rs2486637592
NM_001017420.3(ESCO2):c.955+15G>A rs369338792
NM_001017420.3(ESCO2):c.955+15G>C rs369338792
NM_001017420.3(ESCO2):c.955+17A>C rs1804896579
NM_001017420.3(ESCO2):c.955+17A>G rs1804896579
NM_001017420.3(ESCO2):c.955+19G>A rs1448451556
NM_001017420.3(ESCO2):c.955+21del rs2486637616
NM_001017420.3(ESCO2):c.955+7G>A rs2486637572
NM_001017420.3(ESCO2):c.955+7_955+8del rs555057427
NM_001017420.3(ESCO2):c.956-17G>A rs2486644540
NM_001017420.3(ESCO2):c.956-20_956-18del rs2486644526
NM_001017420.3(ESCO2):c.956-5A>C rs2128953415
NM_001017420.3(ESCO2):c.993A>G (p.Ala331=) rs2128953433
NM_001017420.3(ESCO2):c.999A>G (p.Ser333=) rs2128953434

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.