ClinVar Miner

List of variants in gene ARX reported as likely benign for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509 0.00026
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628 0.00021
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.1269C>T (p.His423=) rs794727656 0.00008
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.642C>A (p.Ala214=) rs997439358 0.00005
NM_139058.3(ARX):c.1389C>T (p.Ser463=) rs760617042 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.1326G>A (p.Pro442=) rs774538294 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.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.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.699C>T (p.Asp233=) rs1277580936 0.00002
NM_139058.3(ARX):c.739G>C (p.Asp247His) rs765259012 0.00002
NM_139058.3(ARX):c.832G>A (p.Ala278Thr) rs751858511 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.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.1448+9C>A rs759009252 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.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.611G>A (p.Arg204His) rs755745002 0.00001
NM_139058.3(ARX):c.639C>T (p.Ser213=) rs2048710797 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.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.873C>G (p.Pro291=) rs1359275622 0.00001
NM_139058.3(ARX):c.8A>G (p.Asn3Ser) rs771031915 0.00001
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.1026A>G (p.Glu342=)
NM_139058.3(ARX):c.1033C>A (p.Arg345=) rs1601948273
NM_139058.3(ARX):c.1050G>A (p.Thr350=)
NM_139058.3(ARX):c.1059G>A (p.Pro353=) rs1060504804
NM_139058.3(ARX):c.1062C>T (p.Asp354=)
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+7G>A
NM_139058.3(ARX):c.1073+8C>A
NM_139058.3(ARX):c.1073+9G>A
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.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.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.1120-4G>A
NM_139058.3(ARX):c.1120-5del rs2147320646
NM_139058.3(ARX):c.1143C>T (p.Ala381=)
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.1185C>T (p.Pro395=)
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.1230C>G (p.Leu410=)
NM_139058.3(ARX):c.1239C>T (p.Tyr413=)
NM_139058.3(ARX):c.1245C>T (p.Asp415=) rs2147320537
NM_139058.3(ARX):c.1248C>T (p.Ala416=)
NM_139058.3(ARX):c.125G>C (p.Arg42Pro) rs763796730
NM_139058.3(ARX):c.1263G>A (p.Pro421=)
NM_139058.3(ARX):c.1263G>T (p.Pro421=)
NM_139058.3(ARX):c.1275G>T (p.Ala425=) rs2048682544
NM_139058.3(ARX):c.1278C>G (p.Leu426=)
NM_139058.3(ARX):c.1296C>T (p.Ala432=) rs990653917
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.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.1314C>T (p.Ala438=)
NM_139058.3(ARX):c.1320C>T (p.Ala440=)
NM_139058.3(ARX):c.1323C>T (p.Phe441=)
NM_139058.3(ARX):c.1326G>C (p.Pro442=) rs774538294
NM_139058.3(ARX):c.132G>C (p.Leu44=)
NM_139058.3(ARX):c.1330C>T (p.Leu444=)
NM_139058.3(ARX):c.1338G>T (p.Pro446=)
NM_139058.3(ARX):c.1344G>C (p.Pro448=)
NM_139058.3(ARX):c.1350G>C (p.Ser450=)
NM_139058.3(ARX):c.1362G>A (p.Pro454=)
NM_139058.3(ARX):c.1362G>T (p.Pro454=)
NM_139058.3(ARX):c.1371G>T (p.Gly457=) rs781348930
NM_139058.3(ARX):c.1374G>A (p.Ala458=)
NM_139058.3(ARX):c.138C>A (p.Ala46=)
NM_139058.3(ARX):c.1404G>A (p.Ala468=)
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.1443C>T (p.Phe481=)
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.1449-10C>T
NM_139058.3(ARX):c.1449-11T>C
NM_139058.3(ARX):c.1449-13G>A
NM_139058.3(ARX):c.1449-20G>A
NM_139058.3(ARX):c.1449-4G>A
NM_139058.3(ARX):c.144G>A (p.Gln48=)
NM_139058.3(ARX):c.1470C>A (p.Pro490=)
NM_139058.3(ARX):c.1473G>C (p.Leu491=)
NM_139058.3(ARX):c.1479C>T (p.Ser493=)
NM_139058.3(ARX):c.1491G>T (p.Ala497=) rs1021002740
NM_139058.3(ARX):c.1494C>G (p.Ala498=)
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.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.1530C>A (p.Gly510=)
NM_139058.3(ARX):c.1533A>G (p.Ala511=) rs1556046751
NM_139058.3(ARX):c.1542G>C (p.Ser514=) rs1240255602
NM_139058.3(ARX):c.1566G>C (p.Thr522=)
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.1587C>G (p.Ala529=)
NM_139058.3(ARX):c.1587C>T (p.Ala529=) rs1601945617
NM_139058.3(ARX):c.1590T>A (p.Ser530=)
NM_139058.3(ARX):c.1599C>A (p.Ala533=) rs1057523196
NM_139058.3(ARX):c.1602G>A (p.Ala534=)
NM_139058.3(ARX):c.1602G>C (p.Ala534=)
NM_139058.3(ARX):c.1611C>G (p.Leu537=)
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.1677G>A (p.Lys559=) rs2147318581
NM_139058.3(ARX):c.174C>A (p.Ala58=)
NM_139058.3(ARX):c.180G>T (p.Pro60=)
NM_139058.3(ARX):c.196+15G>A
NM_139058.3(ARX):c.197-15C>T
NM_139058.3(ARX):c.197-5C>T
NM_139058.3(ARX):c.216C>T (p.Ser72=)
NM_139058.3(ARX):c.219C>T (p.Ala73=)
NM_139058.3(ARX):c.222G>A (p.Pro74=) rs2048714056
NM_139058.3(ARX):c.222G>T (p.Pro74=)
NM_139058.3(ARX):c.240C>T (p.His80=)
NM_139058.3(ARX):c.252G>A (p.Lys84=)
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.273G>A (p.Pro91=)
NM_139058.3(ARX):c.273G>C (p.Pro91=)
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.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.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.510C>T (p.Ser170=) rs2147324103
NM_139058.3(ARX):c.522G>T (p.Ser174=) rs2048711689
NM_139058.3(ARX):c.528C>T (p.Arg176=)
NM_139058.3(ARX):c.540G>A (p.Ala180=) rs794727309
NM_139058.3(ARX):c.549G>A (p.Val183=)
NM_139058.3(ARX):c.552G>A (p.Pro184=)
NM_139058.3(ARX):c.552G>C (p.Pro184=) rs2147324063
NM_139058.3(ARX):c.561C>G (p.Pro187=)
NM_139058.3(ARX):c.579C>T (p.Gly193=)
NM_139058.3(ARX):c.594C>T (p.Val198=)
NM_139058.3(ARX):c.597G>A (p.Thr199=) rs398124515
NM_139058.3(ARX):c.597G>T (p.Thr199=)
NM_139058.3(ARX):c.615C>T (p.Leu205=)
NM_139058.3(ARX):c.618C>T (p.Gly206=)
NM_139058.3(ARX):c.625G>A (p.Gly209Ser) rs587783203
NM_139058.3(ARX):c.633G>A (p.Pro211=)
NM_139058.3(ARX):c.636C>T (p.Gly212=)
NM_139058.3(ARX):c.645G>C (p.Pro215=)
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.675C>T (p.Asp225=)
NM_139058.3(ARX):c.681G>A (p.Glu227=)
NM_139058.3(ARX):c.690G>T (p.Leu230=)
NM_139058.3(ARX):c.711G>A (p.Glu237=)
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.747G>A (p.Glu249=) rs797045305
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.774G>C (p.Ala258=)
NM_139058.3(ARX):c.780C>T (p.Leu260=)
NM_139058.3(ARX):c.790C>A (p.Arg264=)
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.822G>A (p.Val274=)
NM_139058.3(ARX):c.825C>A (p.Ala275=)
NM_139058.3(ARX):c.831A>G (p.Ala277=)
NM_139058.3(ARX):c.858C>T (p.Gly286=)
NM_139058.3(ARX):c.865C>T (p.Leu289=)
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.945G>A (p.Ala315=) rs1310022652
NM_139058.3(ARX):c.948C>T (p.Gly316=)
NM_139058.3(ARX):c.951C>T (p.Ser317=) rs2048708727
NM_139058.3(ARX):c.993C>T (p.Tyr331=)

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