ClinVar Miner

List of variants in gene ARX reported as uncertain significance for West syndrome

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 178
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) rs925128416 0.00021
NM_139058.3(ARX):c.821T>C (p.Val274Ala) rs375289776 0.00009
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.1388G>A (p.Ser463Asn) rs763950769 0.00005
NM_139058.3(ARX):c.629G>C (p.Gly210Ala) rs752323898 0.00005
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.1463T>C (p.Met488Thr) rs759074085 0.00003
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser) rs766065019 0.00003
NM_139058.3(ARX):c.664G>A (p.Gly222Ser) rs1183516776 0.00003
NM_139058.3(ARX):c.1471C>A (p.Leu491Met) rs752807804 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_139058.3(ARX):c.681G>C (p.Glu227Asp) rs887974166 0.00002
NM_139058.3(ARX):c.706G>C (p.Asp236His) rs1291778310 0.00002
NM_139058.3(ARX):c.794G>A (p.Arg265His) rs1223069540 0.00002
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107 0.00002
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala) rs776523818 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.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.644C>T (p.Pro215Leu) rs964935114 0.00001
NM_139058.3(ARX):c.694G>A (p.Glu232Lys) rs1026478061 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_139058.3(ARX):c.101G>C (p.Gly34Ala)
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu) 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.1070C>A (p.Thr357Asn)
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.1073G>A (p.Arg358Lys) rs2147323521
NM_139058.3(ARX):c.107G>A (p.Arg36Lys)
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)
NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)
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.1240C>G (p.Leu414Val)
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala) rs1417254985
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.1273G>A (p.Ala425Thr)
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del) rs1064794482
NM_139058.3(ARX):c.1298C>T (p.Ala433Val) rs2147320466
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[9] (p.Ala439_Ala440dup) rs398124508
NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)
NM_139058.3(ARX):c.1315G>A (p.Ala439Thr)
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) rs2048682085
NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu) rs2147320384
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)
NM_139058.3(ARX):c.137C>T (p.Ala46Val)
NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) rs587783188
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)
NM_139058.3(ARX):c.1449-1G>C
NM_139058.3(ARX):c.1449-3C>A rs1295206345
NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu) rs2048670837
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) rs1556046847
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro) rs2147318769
NM_139058.3(ARX):c.1496C>T (p.Ala499Val)
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile) rs2147318762
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.1541C>G (p.Ser514Trp) rs2048670174
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.155C>A (p.Ala52Asp) rs2048723704
NM_139058.3(ARX):c.1568C>T (p.Ala523Val)
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.1604T>C (p.Leu535Pro)
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
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.1670C>G (p.Thr557Arg)
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.169C>T (p.Arg57Cys)
NM_139058.3(ARX):c.179C>T (p.Pro60Leu) rs1335616654
NM_139058.3(ARX):c.188C>T (p.Ala63Val)
NM_139058.3(ARX):c.195A>G (p.Gln65=)
NM_139058.3(ARX):c.196+6G>A
NM_139058.3(ARX):c.197G>C (p.Gly66Ala)
NM_139058.3(ARX):c.19G>A (p.Glu7Lys)
NM_139058.3(ARX):c.213C>A (p.Ser71Arg)
NM_139058.3(ARX):c.220C>G (p.Pro74Ala)
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.250A>C (p.Lys84Gln) rs2048713939
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.268G>C (p.Gly90Arg)
NM_139058.3(ARX):c.274G>C (p.Gly92Arg) rs2048713809
NM_139058.3(ARX):c.32C>G (p.Ser11Cys)
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.509G>A (p.Ser170Asn) rs1556056051
NM_139058.3(ARX):c.516C>T (p.Ser172=) rs2048711722
NM_139058.3(ARX):c.535G>C (p.Gly179Arg) rs2048711615
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.549GCC[5] (p.Pro187dup) rs1308129416
NM_139058.3(ARX):c.550C>G (p.Pro184Ala)
NM_139058.3(ARX):c.553C>T (p.Pro185Ser) rs2048711460
NM_139058.3(ARX):c.55A>C (p.Lys19Gln)
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.596C>A (p.Thr199Lys)
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) rs1268774120
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.619G>T (p.Val207Leu) rs1276718018
NM_139058.3(ARX):c.61C>G (p.Pro21Ala) rs1601949554
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.635_646del (p.Gly212_Pro215del) rs2147323937
NM_139058.3(ARX):c.641C>A (p.Ala214Asp)
NM_139058.3(ARX):c.644C>A (p.Pro215Gln) rs964935114
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.670G>A (p.Glu224Lys)
NM_139058.3(ARX):c.674A>T (p.Asp225Val) rs1057521690
NM_139058.3(ARX):c.678C>G (p.Asp226Glu) rs764730866
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) rs1556055511
NM_139058.3(ARX):c.713A>T (p.Asp238Val)
NM_139058.3(ARX):c.714C>G (p.Asp238Glu) rs2048710190
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.748G>A (p.Glu250Lys)
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.787C>T (p.Pro263Ser) rs2147323801
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.826G>A (p.Ala276Thr)
NM_139058.3(ARX):c.838G>C (p.Ala280Pro)
NM_139058.3(ARX):c.85A>G (p.Ile29Val)
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.944C>T (p.Ala315Val) rs2048708779
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_139058.3(ARX):c.988C>T (p.Arg330Cys)

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.