ClinVar Miner

List of variants in gene ARX studied for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 508
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509 0.00026
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) rs925128416 0.00021
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628 0.00021
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196 0.00012
NM_139058.3(ARX):c.708T>C (p.Asp236=) rs763458576 0.00012
NM_139058.3(ARX):c.1104C>T (p.Thr368=) rs771822246 0.00010
NM_139058.3(ARX):c.1488C>T (p.Thr496=) rs773666007 0.00010
NM_139058.3(ARX):c.821T>C (p.Val274Ala) rs375289776 0.00009
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00008
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_139058.3(ARX):c.237G>A (p.Leu79=) rs1212876092 0.00006
NM_139058.3(ARX):c.602C>A (p.Pro201Gln) rs1484238484 0.00006
NM_139058.3(ARX):c.603G>A (p.Pro201=) rs1271214509 0.00006
NM_139058.3(ARX):c.1263G>C (p.Pro421=) rs923672115 0.00005
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn) rs763950769 0.00005
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_139058.3(ARX):c.629G>C (p.Gly210Ala) rs752323898 0.00005
NM_139058.3(ARX):c.642C>A (p.Ala214=) rs997439358 0.00005
NM_139058.3(ARX):c.1389C>T (p.Ser463=) rs760617042 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_139058.3(ARX):c.855G>A (p.Glu285=) rs139301257 0.00004
NM_139058.3(ARX):c.921C>A (p.Gly307=) rs398124519 0.00004
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_139058.3(ARX):c.1326G>A (p.Pro442=) rs774538294 0.00003
NM_139058.3(ARX):c.1463T>C (p.Met488Thr) rs759074085 0.00003
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser) rs766065019 0.00003
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296 0.00003
NM_139058.3(ARX):c.1674C>A (p.Gly558=) rs888094094 0.00003
NM_139058.3(ARX):c.196+14C>G rs377487471 0.00003
NM_139058.3(ARX):c.664G>A (p.Gly222Ser) rs1183516776 0.00003
NM_139058.3(ARX):c.776T>C (p.Leu259Pro) rs774291500 0.00003
NM_139058.3(ARX):c.1260T>G (p.Pro420=) rs1057521263 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.1281C>T (p.Asp427=) rs587783185 0.00002
NM_139058.3(ARX):c.1448+10A>G rs774033566 0.00002
NM_139058.3(ARX):c.1471C>A (p.Leu491Met) rs752807804 0.00002
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_139058.3(ARX):c.1668C>T (p.Ser556=) rs1281833018 0.00002
NM_139058.3(ARX):c.591C>T (p.Gly197=) rs1200326478 0.00002
NM_139058.3(ARX):c.651G>A (p.Ala217=) rs587783204 0.00002
NM_139058.3(ARX):c.681G>C (p.Glu227Asp) rs887974166 0.00002
NM_139058.3(ARX):c.699C>T (p.Asp233=) rs1277580936 0.00002
NM_139058.3(ARX):c.706G>C (p.Asp236His) rs1291778310 0.00002
NM_139058.3(ARX):c.739G>C (p.Asp247His) rs765259012 0.00002
NM_139058.3(ARX):c.794G>A (p.Arg265His) rs1223069540 0.00002
NM_139058.3(ARX):c.832G>A (p.Ala278Thr) rs751858511 0.00002
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107 0.00002
NM_139058.3(ARX):c.1027C>T (p.Leu343=) rs370974597 0.00001
NM_139058.3(ARX):c.1073+19C>T rs2048708046 0.00001
NM_139058.3(ARX):c.1073+9G>C rs779717915 0.00001
NM_139058.3(ARX):c.1182C>T (p.His394=) rs950461742 0.00001
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala) rs776523818 0.00001
NM_139058.3(ARX):c.1194G>T (p.Leu398=) rs1211813471 0.00001
NM_139058.3(ARX):c.1233C>T (p.Ser411=) rs1275814443 0.00001
NM_139058.3(ARX):c.124C>A (p.Arg42=) rs866153168 0.00001
NM_139058.3(ARX):c.1257C>T (p.Phe419=) rs1248729100 0.00001
NM_139058.3(ARX):c.1284C>T (p.Ser428=) rs1202135194 0.00001
NM_139058.3(ARX):c.137C>A (p.Ala46Asp) rs753049882 0.00001
NM_139058.3(ARX):c.1404G>T (p.Ala468=) rs794727657 0.00001
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042 0.00001
NM_139058.3(ARX):c.1448+9C>A rs759009252 0.00001
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.1542G>A (p.Ser514=) rs1240255602 0.00001
NM_139058.3(ARX):c.1572C>T (p.Ala524=) rs1601945631 0.00001
NM_139058.3(ARX):c.1605G>C (p.Leu535=) rs1480681695 0.00001
NM_139058.3(ARX):c.179C>G (p.Pro60Arg) rs1335616654 0.00001
NM_139058.3(ARX):c.186G>C (p.Lys62Asn) rs2048723387 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.241C>T (p.Leu81=) rs1601948822 0.00001
NM_139058.3(ARX):c.543C>T (p.Pro181=) rs587780854 0.00001
NM_139058.3(ARX):c.586G>C (p.Gly196Arg) rs1287749285 0.00001
NM_139058.3(ARX):c.592G>A (p.Val198Ile) rs966816905 0.00001
NM_139058.3(ARX):c.610C>A (p.Arg204Ser) rs777162737 0.00001
NM_139058.3(ARX):c.611G>A (p.Arg204His) rs755745002 0.00001
NM_139058.3(ARX):c.639C>T (p.Ser213=) rs2048710797 0.00001
NM_139058.3(ARX):c.644C>T (p.Pro215Leu) rs964935114 0.00001
NM_139058.3(ARX):c.657T>C (p.Gly219=) rs755317735 0.00001
NM_139058.3(ARX):c.678C>T (p.Asp226=) rs764730866 0.00001
NM_139058.3(ARX):c.694G>A (p.Glu232Lys) rs1026478061 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_139058.3(ARX):c.770G>C (p.Arg257Pro) rs1239494313 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_139058.3(ARX):c.825C>T (p.Ala275=) rs922800521 0.00001
NM_139058.3(ARX):c.837C>G (p.Ala279=) rs1190644757 0.00001
NM_139058.3(ARX):c.840T>C (p.Ala280=) rs936582415 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_139058.3(ARX):c.873C>G (p.Pro291=) rs1359275622 0.00001
NM_139058.3(ARX):c.8A>G (p.Asn3Ser) rs771031915 0.00001
NC_000023.10:g.(?_25022787)_(25033854_?)dup
NC_000023.11:g.25013829_25017090del
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1005C>T (p.Phe335=)
NM_139058.3(ARX):c.1008C>A (p.Thr336=) rs2147323576
NM_139058.3(ARX):c.1014C>T (p.Tyr338=)
NM_139058.3(ARX):c.1017G>A (p.Gln339=)
NM_139058.3(ARX):c.101G>C (p.Gly34Ala)
NM_139058.3(ARX):c.1026A>G (p.Glu342=)
NM_139058.3(ARX):c.1033C>A (p.Arg345=) rs1601948273
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu) rs1556054888
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu) rs1060503040
NM_139058.3(ARX):c.104G>A (p.Arg35Gln)
NM_139058.3(ARX):c.1050G>A (p.Thr350=)
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1059G>A (p.Pro353=) rs1060504804
NM_139058.3(ARX):c.1062C>T (p.Asp354=)
NM_139058.3(ARX):c.1070C>A (p.Thr357Asn)
NM_139058.3(ARX):c.1073+13G>A
NM_139058.3(ARX):c.1073+14G>T
NM_139058.3(ARX):c.1073+18T>C
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1073+4T>C rs1460686418
NM_139058.3(ARX):c.1073+5G>A
NM_139058.3(ARX):c.1073+6C>T rs1176939436
NM_139058.3(ARX):c.1073+7G>A
NM_139058.3(ARX):c.1073+8C>A
NM_139058.3(ARX):c.1073+9G>A
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys) rs2147323521
NM_139058.3(ARX):c.1074-20T>G
NM_139058.3(ARX):c.1074-5T>C
NM_139058.3(ARX):c.1074-7C>A
NM_139058.3(ARX):c.107G>A (p.Arg36Lys)
NM_139058.3(ARX):c.1083G>A (p.Leu361=)
NM_139058.3(ARX):c.1083G>C (p.Leu361=)
NM_139058.3(ARX):c.1095G>C (p.Leu365=)
NM_139058.3(ARX):c.1095G>T (p.Leu365=)
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)
NM_139058.3(ARX):c.1116C>A (p.Val372=)
NM_139058.3(ARX):c.1119+14C>T
NM_139058.3(ARX):c.1119+16G>A
NM_139058.3(ARX):c.1119+20G>A rs2048696652
NM_139058.3(ARX):c.1120-12T>G
NM_139058.3(ARX):c.1120-17CT[3] rs763304807
NM_139058.3(ARX):c.1120-2A>G rs2147320644
NM_139058.3(ARX):c.1120-4G>A
NM_139058.3(ARX):c.1120-5del rs2147320646
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) rs2147320638
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser) rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) rs1556049714
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)
NM_139058.3(ARX):c.1143C>T (p.Ala381=)
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
NM_139058.3(ARX):c.1155G>A (p.Lys385=) rs1053434875
NM_139058.3(ARX):c.1158G>T (p.Arg386=)
NM_139058.3(ARX):c.1173G>A (p.Ala391=)
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
NM_139058.3(ARX):c.1185C>T (p.Pro395=)
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)
NM_139058.3(ARX):c.1203G>C (p.Pro401=)
NM_139058.3(ARX):c.1209G>A (p.Pro403=) rs1380487514
NM_139058.3(ARX):c.1209G>C (p.Pro403=) rs1380487514
NM_139058.3(ARX):c.121A>C (p.Met41Leu) rs2147325425
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln) rs1601946603
NM_139058.3(ARX):c.1230C>G (p.Leu410=)
NM_139058.3(ARX):c.1239C>T (p.Tyr413=)
NM_139058.3(ARX):c.1240C>G (p.Leu414Val)
NM_139058.3(ARX):c.1245C>T (p.Asp415=) rs2147320537
NM_139058.3(ARX):c.1248C>T (p.Ala416=)
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725
NM_139058.3(ARX):c.125G>C (p.Arg42Pro) rs763796730
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala) rs1417254985
NM_139058.3(ARX):c.1263G>A (p.Pro421=)
NM_139058.3(ARX):c.1263G>T (p.Pro421=)
NM_139058.3(ARX):c.1265ACC[1] (p.His423del) rs2147320498
NM_139058.3(ARX):c.1270C>G (p.Pro424Ala) rs2147320496
NM_139058.3(ARX):c.1271C>T (p.Pro424Leu) rs2147320493
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1273G>A (p.Ala425Thr)
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
NM_139058.3(ARX):c.1275G>T (p.Ala425=) rs2048682544
NM_139058.3(ARX):c.1278C>G (p.Leu426=)
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) rs2048682045
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del) rs1064794482
NM_139058.3(ARX):c.1296C>T (p.Ala432=) rs990653917
NM_139058.3(ARX):c.1298C>T (p.Ala433Val) rs2147320466
NM_139058.3(ARX):c.1299T>A (p.Ala433=) rs952488301
NM_139058.3(ARX):c.1299T>C (p.Ala433=)
NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del) rs776061068
NM_139058.3(ARX):c.1299_1313dup (p.Ala440_Phe441insAlaAlaAlaAlaAla)
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup) rs398124508
NM_139058.3(ARX):c.1302C>T (p.Ala434=)
NM_139058.3(ARX):c.1305C>T (p.Ala435=)
NM_139058.3(ARX):c.1308C>T (p.Ala436=)
NM_139058.3(ARX):c.1311C>A (p.Ala437=) rs1307707269
NM_139058.3(ARX):c.1311C>T (p.Ala437=)
NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)
NM_139058.3(ARX):c.1314C>T (p.Ala438=)
NM_139058.3(ARX):c.1315G>A (p.Ala439Thr)
NM_139058.3(ARX):c.1320C>T (p.Ala440=)
NM_139058.3(ARX):c.1323C>T (p.Phe441=)
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)
NM_139058.3(ARX):c.1326G>C (p.Pro442=) rs774538294
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) rs2048682085
NM_139058.3(ARX):c.132G>C (p.Leu44=)
NM_139058.3(ARX):c.1330C>T (p.Leu444=)
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)
NM_139058.3(ARX):c.1338G>T (p.Pro446=)
NM_139058.3(ARX):c.1344G>C (p.Pro448=)
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.1350G>C (p.Ser450=)
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)
NM_139058.3(ARX):c.1358T>G (p.Leu453Arg) rs2147320389
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu) rs2147320384
NM_139058.3(ARX):c.1362G>A (p.Pro454=)
NM_139058.3(ARX):c.1362G>T (p.Pro454=)
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1371G>T (p.Gly457=) rs781348930
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)
NM_139058.3(ARX):c.1374G>A (p.Ala458=)
NM_139058.3(ARX):c.137C>T (p.Ala46Val)
NM_139058.3(ARX):c.138C>A (p.Ala46=)
NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) rs587783188
NM_139058.3(ARX):c.1404G>A (p.Ala468=)
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.141G>A (p.Ala47=)
NM_139058.3(ARX):c.1425T>C (p.Ala475=) rs2147320329
NM_139058.3(ARX):c.1428C>T (p.Phe476=)
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1443C>T (p.Phe481=)
NM_139058.3(ARX):c.1443dup (p.Gly482fs) rs2147320305
NM_139058.3(ARX):c.1446C>G (p.Gly482=)
NM_139058.3(ARX):c.1448+11G>C
NM_139058.3(ARX):c.1448+14T>C rs1201797048
NM_139058.3(ARX):c.1448+15C>T rs2147320273
NM_139058.3(ARX):c.1448+16G>A
NM_139058.3(ARX):c.1448+19del
NM_139058.3(ARX):c.1448+20G>A
NM_139058.3(ARX):c.1448+7_1448+9del rs2147320285
NM_139058.3(ARX):c.1448+8G>A
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)
NM_139058.3(ARX):c.1449-10C>T
NM_139058.3(ARX):c.1449-11T>C
NM_139058.3(ARX):c.1449-13G>A
NM_139058.3(ARX):c.1449-1G>C
NM_139058.3(ARX):c.1449-20G>A
NM_139058.3(ARX):c.1449-3C>A rs1295206345
NM_139058.3(ARX):c.1449-4G>A
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.144G>A (p.Gln48=)
NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu) rs2048670837
NM_139058.3(ARX):c.1470C>A (p.Pro490=)
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1473G>C (p.Leu491=)
NM_139058.3(ARX):c.1479C>T (p.Ser493=)
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) rs1556046847
NM_139058.3(ARX):c.1491G>T (p.Ala497=) rs1021002740
NM_139058.3(ARX):c.1494C>G (p.Ala498=)
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro) rs2147318769
NM_139058.3(ARX):c.1496C>T (p.Ala499Val)
NM_139058.3(ARX):c.1497G>A (p.Ala499=) rs770318189
NM_139058.3(ARX):c.1497G>C (p.Ala499=) rs770318189
NM_139058.3(ARX):c.1497G>T (p.Ala499=) rs770318189
NM_139058.3(ARX):c.1497del (p.Leu500fs)
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile) rs2147318762
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)
NM_139058.3(ARX):c.1500C>G (p.Leu500=)
NM_139058.3(ARX):c.1503G>A (p.Leu501=) rs2147318758
NM_139058.3(ARX):c.1518C>G (p.Pro506=) rs1601945679
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs) rs1569393457
NM_139058.3(ARX):c.1522G>A (p.Val508Met) rs2048670414
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp) rs2048670328
NM_139058.3(ARX):c.152C>G (p.Pro51Arg)
NM_139058.3(ARX):c.1530C>A (p.Gly510=)
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1533A>G (p.Ala511=) rs1556046751
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp) rs2048670174
NM_139058.3(ARX):c.1542G>C (p.Ser514=) rs1240255602
NM_139058.3(ARX):c.1546G>C (p.Ala516Pro) rs747042039
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)
NM_139058.3(ARX):c.155C>A (p.Ala52Asp) rs2048723704
NM_139058.3(ARX):c.1566G>C (p.Thr522=)
NM_139058.3(ARX):c.1568C>T (p.Ala523Val)
NM_139058.3(ARX):c.1569G>A (p.Ala523=)
NM_139058.3(ARX):c.1569G>C (p.Ala523=) rs1601945635
NM_139058.3(ARX):c.1575A>T (p.Ala525=)
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) rs1601945626
NM_139058.3(ARX):c.1587C>G (p.Ala529=)
NM_139058.3(ARX):c.1587C>T (p.Ala529=) rs1601945617
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys) rs2048669628
NM_139058.3(ARX):c.158C>G (p.Pro53Arg) rs1329228660
NM_139058.3(ARX):c.1590T>A (p.Ser530=)
NM_139058.3(ARX):c.1599C>A (p.Ala533=) rs1057523196
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1602G>A (p.Ala534=)
NM_139058.3(ARX):c.1602G>C (p.Ala534=)
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.1604T>C (p.Leu535Pro)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.1611C>G (p.Leu537=)
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr) rs2147318633
NM_139058.3(ARX):c.1616C>T (p.Ala539Val) rs2048669327
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu) rs2048669310
NM_139058.3(ARX):c.1621G>T (p.Glu541Ter) rs938274319
NM_139058.3(ARX):c.1629G>A (p.Ala543=)
NM_139058.3(ARX):c.1638C>G (p.Leu546=)
NM_139058.3(ARX):c.1638C>T (p.Leu546=)
NM_139058.3(ARX):c.1641G>A (p.Thr547=)
NM_139058.3(ARX):c.1659G>A (p.Pro553=)
NM_139058.3(ARX):c.1670C>G (p.Thr557Arg)
NM_139058.3(ARX):c.1677G>A (p.Lys559=) rs2147318581
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.169C>T (p.Arg57Cys)
NM_139058.3(ARX):c.174C>A (p.Ala58=)
NM_139058.3(ARX):c.179C>T (p.Pro60Leu) rs1335616654
NM_139058.3(ARX):c.180G>T (p.Pro60=)
NM_139058.3(ARX):c.188C>T (p.Ala63Val)
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.195A>G (p.Gln65=)
NM_139058.3(ARX):c.196+15G>A
NM_139058.3(ARX):c.196+6G>A
NM_139058.3(ARX):c.197-15C>T
NM_139058.3(ARX):c.197-5C>T
NM_139058.3(ARX):c.197G>C (p.Gly66Ala)
NM_139058.3(ARX):c.19G>A (p.Glu7Lys)
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_139058.3(ARX):c.213C>A (p.Ser71Arg)
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.216C>T (p.Ser72=)
NM_139058.3(ARX):c.219C>T (p.Ala73=)
NM_139058.3(ARX):c.220C>G (p.Pro74Ala)
NM_139058.3(ARX):c.222G>A (p.Pro74=) rs2048714056
NM_139058.3(ARX):c.222G>T (p.Pro74=)
NM_139058.3(ARX):c.225C>G (p.Phe75Leu)
NM_139058.3(ARX):c.227A>G (p.Glu76Gly) rs2147324478
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
NM_139058.3(ARX):c.239A>G (p.His80Arg)
NM_139058.3(ARX):c.240C>T (p.His80=)
NM_139058.3(ARX):c.250A>C (p.Lys84Gln) rs2048713939
NM_139058.3(ARX):c.252G>A (p.Lys84=)
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.264G>A (p.Leu88=) rs1556056513
NM_139058.3(ARX):c.267C>T (p.Tyr89=) rs1060504805
NM_139058.3(ARX):c.268G>C (p.Gly90Arg)
NM_139058.3(ARX):c.273G>A (p.Pro91=)
NM_139058.3(ARX):c.273G>C (p.Pro91=)
NM_139058.3(ARX):c.274G>C (p.Gly92Arg) rs2048713809
NM_139058.3(ARX):c.276C>T (p.Gly92=)
NM_139058.3(ARX):c.279G>A (p.Gly93=) rs1299202405
NM_139058.3(ARX):c.279G>T (p.Gly93=)
NM_139058.3(ARX):c.27C>G (p.Gly9=)
NM_139058.3(ARX):c.291T>C (p.Leu97=) rs2147324418
NM_139058.3(ARX):c.294G>A (p.Gln98=)
NM_139058.3(ARX):c.32C>G (p.Ser11Cys)
NM_139058.3(ARX):c.33C>T (p.Ser11=)
NM_139058.3(ARX):c.42C>G (p.Pro14=) rs2048724355
NM_139058.3(ARX):c.42C>T (p.Pro14=)
NM_139058.3(ARX):c.43G>C (p.Glu15Gln)
NM_139058.3(ARX):c.44A>G (p.Glu15Gly)
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe) rs1569395505
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.492G>A (p.Ala164=)
NM_139058.3(ARX):c.495G>T (p.Pro165=)
NM_139058.3(ARX):c.498G>A (p.Gln166=)
NM_139058.3(ARX):c.501G>A (p.Val167=) rs2048711777
NM_139058.3(ARX):c.504C>T (p.Ser168=)
NM_139058.3(ARX):c.509G>A (p.Ser170Asn) rs1556056051
NM_139058.3(ARX):c.510C>T (p.Ser170=) rs2147324103
NM_139058.3(ARX):c.516C>T (p.Ser172=) rs2048711722
NM_139058.3(ARX):c.522G>T (p.Ser174=) rs2048711689
NM_139058.3(ARX):c.528C>T (p.Arg176=)
NM_139058.3(ARX):c.535G>C (p.Gly179Arg) rs2048711615
NM_139058.3(ARX):c.540G>A (p.Ala180=) rs794727309
NM_139058.3(ARX):c.541C>A (p.Pro181Thr) rs2147324074
NM_139058.3(ARX):c.541C>T (p.Pro181Ser)
NM_139058.3(ARX):c.547G>C (p.Val183Leu)
NM_139058.3(ARX):c.549G>A (p.Val183=)
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup) rs1308129416
NM_139058.3(ARX):c.550C>G (p.Pro184Ala)
NM_139058.3(ARX):c.552G>A (p.Pro184=)
NM_139058.3(ARX):c.552G>C (p.Pro184=) rs2147324063
NM_139058.3(ARX):c.553C>T (p.Pro185Ser) rs2048711460
NM_139058.3(ARX):c.55A>C (p.Lys19Gln)
NM_139058.3(ARX):c.561C>G (p.Pro187=)
NM_139058.3(ARX):c.563C>G (p.Ala188Gly) rs1441240819
NM_139058.3(ARX):c.578G>C (p.Gly193Ala) rs2147324028
NM_139058.3(ARX):c.579C>T (p.Gly193=)
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.594C>T (p.Val198=)
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) rs1268774120
NM_139058.3(ARX):c.597G>A (p.Thr199=) rs398124515
NM_139058.3(ARX):c.597G>T (p.Thr199=)
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) rs755745002
NM_139058.3(ARX):c.613C>T (p.Leu205Phe) rs797045304
NM_139058.3(ARX):c.615C>T (p.Leu205=)
NM_139058.3(ARX):c.618C>T (p.Gly206=)
NM_139058.3(ARX):c.619G>T (p.Val207Leu) rs1276718018
NM_139058.3(ARX):c.61C>G (p.Pro21Ala) rs1601949554
NM_139058.3(ARX):c.625G>A (p.Gly209Ser) rs587783203
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) rs587783203
NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)
NM_139058.3(ARX):c.629G>T (p.Gly210Val) rs752323898
NM_139058.3(ARX):c.632C>G (p.Pro211Arg)
NM_139058.3(ARX):c.633G>A (p.Pro211=)
NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del) rs2147323937
NM_139058.3(ARX):c.636C>T (p.Gly212=)
NM_139058.3(ARX):c.641C>A (p.Ala214Asp)
NM_139058.3(ARX):c.642_645del (p.Pro215fs) rs2147323943
NM_139058.3(ARX):c.644C>A (p.Pro215Gln) rs964935114
NM_139058.3(ARX):c.645G>C (p.Pro215=)
NM_139058.3(ARX):c.659G>A (p.Gly220Asp)
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3]) rs876661147
NM_139058.3(ARX):c.662C>T (p.Thr221Ile) rs1017790646
NM_139058.3(ARX):c.663C>G (p.Thr221=) rs1006404746
NM_139058.3(ARX):c.664G>C (p.Gly222Arg) rs1183516776
NM_139058.3(ARX):c.669C>A (p.Thr223=) rs1473823603
NM_139058.3(ARX):c.669C>G (p.Thr223=)
NM_139058.3(ARX):c.669C>T (p.Thr223=)
NM_139058.3(ARX):c.670G>A (p.Glu224Lys)
NM_139058.3(ARX):c.674A>T (p.Asp225Val) rs1057521690
NM_139058.3(ARX):c.675C>T (p.Asp225=)
NM_139058.3(ARX):c.678C>G (p.Asp226Glu) rs764730866
NM_139058.3(ARX):c.681G>A (p.Glu227=)
NM_139058.3(ARX):c.690G>T (p.Leu230=)
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) rs1556055511
NM_139058.3(ARX):c.711G>A (p.Glu237=)
NM_139058.3(ARX):c.713A>T (p.Asp238Val)
NM_139058.3(ARX):c.714C>G (p.Asp238Glu) rs2048710190
NM_139058.3(ARX):c.714C>T (p.Asp238=)
NM_139058.3(ARX):c.717G>A (p.Glu239=)
NM_139058.3(ARX):c.729G>A (p.Leu243=)
NM_139058.3(ARX):c.731T>C (p.Leu244Pro)
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1]) rs1473310605
NM_139058.3(ARX):c.747G>A (p.Glu249=) rs797045305
NM_139058.3(ARX):c.748G>A (p.Glu250Lys)
NM_139058.3(ARX):c.756G>C (p.Leu252=)
NM_139058.3(ARX):c.762C>T (p.Asp254=)
NM_139058.3(ARX):c.765C>T (p.Asp255=)
NM_139058.3(ARX):c.766G>A (p.Ala256Thr) rs769056463
NM_139058.3(ARX):c.766G>C (p.Ala256Pro) rs769056463
NM_139058.3(ARX):c.769C>G (p.Arg257Gly) rs1475419182
NM_139058.3(ARX):c.769C>T (p.Arg257Cys)
NM_139058.3(ARX):c.770G>A (p.Arg257His)
NM_139058.3(ARX):c.771C>T (p.Arg257=) rs1601948418
NM_139058.3(ARX):c.773C>A (p.Ala258Glu) rs759399062
NM_139058.3(ARX):c.774G>C (p.Ala258=)
NM_139058.3(ARX):c.780C>T (p.Leu260=)
NM_139058.3(ARX):c.787C>T (p.Pro263Ser) rs2147323801
NM_139058.3(ARX):c.790C>A (p.Arg264=)
NM_139058.3(ARX):c.808G>A (p.Ala270Thr) rs1057520487
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) rs2048724116
NM_139058.3(ARX):c.810C>T (p.Ala270=)
NM_139058.3(ARX):c.813T>C (p.Thr271=)
NM_139058.3(ARX):c.816C>T (p.Gly272=)
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.822G>A (p.Val274=)
NM_139058.3(ARX):c.825C>A (p.Ala275=)
NM_139058.3(ARX):c.826G>A (p.Ala276Thr)
NM_139058.3(ARX):c.831A>G (p.Ala277=)
NM_139058.3(ARX):c.838G>C (p.Ala280Pro)
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_139058.3(ARX):c.858C>T (p.Gly286=)
NM_139058.3(ARX):c.85A>G (p.Ile29Val)
NM_139058.3(ARX):c.865C>T (p.Leu289=)
NM_139058.3(ARX):c.86T>C (p.Ile29Thr) rs2147325441
NM_139058.3(ARX):c.87C>G (p.Ile29Met) rs148694386
NM_139058.3(ARX):c.887T>C (p.Leu296Pro)
NM_139058.3(ARX):c.893A>T (p.His298Leu)
NM_139058.3(ARX):c.899A>C (p.Glu300Ala)
NM_139058.3(ARX):c.904G>C (p.Ala302Pro) rs146224124
NM_139058.3(ARX):c.921C>T (p.Gly307=) rs398124519
NM_139058.3(ARX):c.924G>A (p.Glu308=)
NM_139058.3(ARX):c.927C>T (p.Asp309=)
NM_139058.3(ARX):c.930C>T (p.Ser310=) rs1569395305
NM_139058.3(ARX):c.936C>T (p.Cys312=)
NM_139058.3(ARX):c.944C>T (p.Ala315Val) rs2048708779
NM_139058.3(ARX):c.945G>A (p.Ala315=) rs1310022652
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_139058.3(ARX):c.948C>T (p.Gly316=)
NM_139058.3(ARX):c.951C>T (p.Ser317=) rs2048708727
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) rs2048708701
NM_139058.3(ARX):c.988C>T (p.Arg330Cys)
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_139058.3(ARX):c.993C>T (p.Tyr331=)
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612

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