ClinVar Miner

List of variants in gene ALX4 studied for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_021926.4(ALX4):c.621A>G (p.Ser207=) rs10769028 0.99242
NM_021926.4(ALX4):c.*2110A>G rs7105993 0.99108
NM_021926.4(ALX4):c.467-45T>C rs11037929 0.95917
NM_021926.4(ALX4):c.*3107A>G rs4755239 0.90297
NM_021926.4(ALX4):c.*547A>G rs4755796 0.81277
NM_021926.4(ALX4):c.778-117T>C rs10742699 0.79676
NM_021926.4(ALX4):c.*2682C>T rs897005 0.69471
NM_021926.4(ALX4):c.*517C>T rs4755797 0.67187
NM_021926.4(ALX4):c.778-140G>C rs10769024 0.57195
NM_021926.4(ALX4):c.104G>C (p.Arg35Thr) rs3824915 0.42227
NM_021926.4(ALX4):c.304C>T (p.Pro102Ser) rs12421995 0.32933
NM_021926.4(ALX4):c.1074C>T (p.His358=) rs3802805 0.29957
NM_021926.4(ALX4):c.*2479T>C rs897004 0.26076
NM_021926.4(ALX4):c.*2832A>C rs1840254 0.24185
NM_021926.4(ALX4):c.*3166C>T rs7116335 0.23498
NM_021926.4(ALX4):c.*228C>T rs4755798 0.23484
NM_021926.4(ALX4):c.729G>A (p.Ala243=) rs11037928 0.10227
NM_021926.4(ALX4):c.879C>T (p.Leu293=) rs12419361 0.09492
NM_021926.4(ALX4):c.*1896A>G rs55959427 0.08833
NM_021926.4(ALX4):c.*1699G>T rs7942612 0.08488
NM_021926.4(ALX4):c.778-11G>A rs75147697 0.08417
NM_021926.4(ALX4):c.*973G>A rs117526668 0.07512
NM_021926.4(ALX4):c.*1447G>A rs11037920 0.02530
NM_021926.4(ALX4):c.594C>A (p.Leu198=) rs61737295 0.02470
NM_021926.4(ALX4):c.*2226G>A rs78607024 0.02447
NM_021926.4(ALX4):c.*972C>T rs151214135 0.01593
NM_021926.4(ALX4):c.*3596C>G rs11037919 0.01480
NM_021926.4(ALX4):c.*1901A>G rs78007447 0.01238
NM_021926.4(ALX4):c.*922T>G rs185632337 0.01097
NM_021926.4(ALX4):c.*923C>T rs181642223 0.01096
NM_021926.4(ALX4):c.*1227G>A rs76501131 0.01081
NM_021926.4(ALX4):c.*902G>A rs76229477 0.00875
NM_021926.4(ALX4):c.*1713G>C rs76845793 0.00799
NM_021926.4(ALX4):c.*156G>A rs376658247 0.00776
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_021926.4(ALX4):c.918G>A (p.Pro306=) rs145904583 0.00731
NM_021926.4(ALX4):c.*1345G>A rs113781536 0.00680
NM_021926.4(ALX4):c.*3012C>G rs117877500 0.00663
NM_021926.4(ALX4):c.*290T>C rs7128671 0.00637
NM_021926.4(ALX4):c.*2507G>A rs75369525 0.00635
NM_021926.4(ALX4):c.*1131T>C rs10458913 0.00627
NM_021926.4(ALX4):c.*266T>G rs60998360 0.00609
NM_021926.4(ALX4):c.69G>C (p.Pro23=) rs115968657 0.00532
NM_021926.4(ALX4):c.*2828C>T rs77015141 0.00418
NM_021926.4(ALX4):c.*3769T>C rs116662493 0.00400
NM_021926.4(ALX4):c.*3773A>G rs114755169 0.00394
NM_021926.4(ALX4):c.*2244G>A rs183882854 0.00303
NM_021926.4(ALX4):c.*997C>G rs192668810 0.00293
NM_021926.4(ALX4):c.*2673T>A rs146304390 0.00260
NM_021926.4(ALX4):c.*963G>A rs140400459 0.00249
NM_021926.4(ALX4):c.*524C>T rs534068592 0.00212
NM_021926.4(ALX4):c.*2349C>A rs139570599 0.00210
NM_021926.4(ALX4):c.*1913G>A rs189662898 0.00188
NM_021926.4(ALX4):c.*2991G>A rs556132435 0.00186
NM_021926.4(ALX4):c.*46G>A rs72905941 0.00185
NM_021926.4(ALX4):c.*262G>A rs560751940 0.00180
NM_021926.4(ALX4):c.*3123G>A rs182987016 0.00175
NM_021926.4(ALX4):c.*1629C>T rs184605209 0.00172
NM_021926.4(ALX4):c.*2845G>A rs182853569 0.00172
NM_021926.4(ALX4):c.*1048C>T rs532888348 0.00153
NM_021926.4(ALX4):c.*1088G>A rs149094042 0.00135
NM_021926.4(ALX4):c.*782A>G rs373562733 0.00123
NM_021926.4(ALX4):c.*3033G>A rs886048287 0.00121
NM_021926.4(ALX4):c.*1463C>G rs771684261 0.00120
NM_021926.4(ALX4):c.*1121C>T rs146483327 0.00118
NM_021926.4(ALX4):c.*899C>T rs543627488 0.00113
NM_021926.4(ALX4):c.*3805G>A rs373307279 0.00108
NM_021926.4(ALX4):c.1035C>T (p.Ser345=) rs140652481 0.00064
NM_021926.4(ALX4):c.*3241C>G rs550434819 0.00063
NM_021926.4(ALX4):c.*867C>T rs746147000 0.00054
NM_021926.4(ALX4):c.917C>T (p.Pro306Leu) rs149897209 0.00052
NM_021926.4(ALX4):c.*3577C>T rs569151215 0.00047
NM_021926.4(ALX4):c.*3381C>T rs531931217 0.00045
NM_021926.4(ALX4):c.*1365C>A rs529798397 0.00041
NM_021926.4(ALX4):c.*4105C>T rs560087261 0.00040
NM_021926.4(ALX4):c.1182G>A (p.Ala394=) rs149365713 0.00031
NM_021926.4(ALX4):c.*2750G>A rs372769669 0.00029
NM_021926.4(ALX4):c.*2071C>T rs886048295 0.00025
NM_021926.3(ALX4):c.-81C>T rs886048305 0.00021
NM_021926.4(ALX4):c.*3382G>A rs748214374 0.00021
NM_021926.4(ALX4):c.226C>A (p.Pro76Thr) rs79200219 0.00018
NM_021926.4(ALX4):c.*2469T>C rs886048293 0.00016
NM_021926.4(ALX4):c.1149C>T (p.Asn383=) rs376675326 0.00016
NM_021926.4(ALX4):c.188G>A (p.Arg63Gln) rs372830230 0.00016
NM_021926.4(ALX4):c.*1003C>A rs776365654 0.00015
NM_021926.4(ALX4):c.728C>T (p.Ala243Val) rs145166164 0.00013
NM_021926.4(ALX4):c.-36G>C rs533107251 0.00012
NM_021926.4(ALX4):c.*3134G>A rs766967309 0.00011
NM_021926.4(ALX4):c.*3999C>T rs369328027 0.00011
NM_021926.4(ALX4):c.*563C>T rs574340639 0.00011
NM_021926.4(ALX4):c.*1408G>T rs886048300 0.00010
NM_021926.4(ALX4):c.*407G>A rs539799951 0.00009
NM_021926.4(ALX4):c.217C>T (p.Leu73=) rs766525768 0.00009
NM_021926.4(ALX4):c.*229G>A rs920950667 0.00007
NM_021926.4(ALX4):c.*2431C>T rs886048294 0.00006
NM_021926.4(ALX4):c.*2478T>C rs187228888 0.00006
NM_021926.4(ALX4):c.*437C>T rs542591808 0.00006
NM_021926.4(ALX4):c.1106G>A (p.Gly369Glu) rs750221052 0.00006
NM_021926.4(ALX4):c.1185C>G (p.Ala395=) rs751941183 0.00006
NM_021926.4(ALX4):c.1206G>A (p.Glu402=) rs375068808 0.00006
NM_021926.4(ALX4):c.*196C>T rs189945537 0.00005
NM_021926.4(ALX4):c.*1076C>T rs1031249586 0.00004
NM_021926.4(ALX4):c.*1599C>T rs561685019 0.00004
NM_021926.4(ALX4):c.*18G>A rs749052167 0.00004
NM_021926.4(ALX4):c.*3112C>T rs886048286 0.00004
NM_021926.4(ALX4):c.*3259G>A rs1054318916 0.00004
NM_021926.4(ALX4):c.*1466G>A rs552492615 0.00003
NM_021926.4(ALX4):c.*1710T>C rs886048297 0.00003
NM_021926.4(ALX4):c.*79G>A rs886048304 0.00003
NM_021926.4(ALX4):c.291G>A (p.Pro97=) rs767580968 0.00003
NM_021926.4(ALX4):c.*1157C>A rs886048302 0.00002
NM_021926.4(ALX4):c.*2030G>A rs886048296 0.00002
NM_021926.4(ALX4):c.*3755_*3760del rs886048284 0.00002
NM_021926.4(ALX4):c.*3825G>C rs538499078 0.00002
NM_021926.4(ALX4):c.1218C>T (p.Ala406=) rs745849255 0.00002
NM_021926.4(ALX4):c.*1025C>T rs142207322 0.00001
NM_021926.4(ALX4):c.*1135C>T rs886048303 0.00001
NM_021926.4(ALX4):c.*1356T>C rs886048301 0.00001
NM_021926.4(ALX4):c.*1627T>G rs1271697400 0.00001
NM_021926.4(ALX4):c.*2208C>A rs1350470913 0.00001
NM_021926.4(ALX4):c.*25C>T rs780898515 0.00001
NM_021926.4(ALX4):c.*2668T>C rs886048291 0.00001
NM_021926.4(ALX4):c.*2883C>A rs886048289 0.00001
NM_021926.4(ALX4):c.*296C>T rs867734583 0.00001
NM_021926.4(ALX4):c.*3016G>A rs886048288 0.00001
NM_021926.4(ALX4):c.*3220G>A rs1956182984 0.00001
NM_021926.4(ALX4):c.*3949C>G rs1956178633 0.00001
NM_021926.4(ALX4):c.*4094T>C rs1030516530 0.00001
NM_021926.4(ALX4):c.1163G>A (p.Arg388His) rs756876780 0.00001
NM_021926.4(ALX4):c.275C>G (p.Pro92Arg) rs1036676266 0.00001
NM_021926.4(ALX4):c.474G>C (p.Glu158Asp) rs553689111 0.00001
NM_021926.4(ALX4):c.561G>T (p.Val187=) rs774556630 0.00001
NM_021926.4(ALX4):c.620C>T (p.Ser207Leu) rs104894197 0.00001
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) rs104894193 0.00001
NM_021926.4(ALX4):c.*1122G>A rs1056695823
NM_021926.4(ALX4):c.*1346del rs544187857
NM_021926.4(ALX4):c.*1444G>C rs886048299
NM_021926.4(ALX4):c.*1470C>T rs886048298
NM_021926.4(ALX4):c.*1532G>A rs373805569
NM_021926.4(ALX4):c.*1590G>A rs562110335
NM_021926.4(ALX4):c.*2181A>G rs1590683863
NM_021926.4(ALX4):c.*2463T>C rs192114163
NM_021926.4(ALX4):c.*2489C>T rs886048292
NM_021926.4(ALX4):c.*2835A>T rs886048290
NM_021926.4(ALX4):c.*2861C>A rs192487688
NM_021926.4(ALX4):c.*2939C>A rs1035301125
NM_021926.4(ALX4):c.*3033G>C rs886048287
NM_021926.4(ALX4):c.*3081C>T rs139681611
NM_021926.4(ALX4):c.*3405G>A rs7115841
NM_021926.4(ALX4):c.*3405G>T rs7115841
NM_021926.4(ALX4):c.*3506T>A rs886048285
NM_021926.4(ALX4):c.*3553T>C rs1294809456
NM_021926.4(ALX4):c.*3626T>G rs1956180135
NM_021926.4(ALX4):c.*3988T>A rs886048283
NM_021926.4(ALX4):c.*424dup rs113592690
NM_021926.4(ALX4):c.*562C>G rs1035739473
NM_021926.4(ALX4):c.*573C>T rs554752826
NM_021926.4(ALX4):c.*804AAG[1] rs149719812
NM_021926.4(ALX4):c.*855C>A rs573850141
NM_021926.4(ALX4):c.*856G>A rs951437284
NM_021926.4(ALX4):c.*859C>A rs758619819
NM_021926.4(ALX4):c.*944G>T rs188954464
NM_021926.4(ALX4):c.*962C>T rs552527026
NM_021926.4(ALX4):c.16dup (p.Cys6fs) rs746479735
NM_021926.4(ALX4):c.280C>T (p.Pro94Ser) rs760627532
NM_021926.4(ALX4):c.347C>G (p.Pro116Arg) rs772691401
NM_021926.4(ALX4):c.348G>T (p.Pro116=) rs769501075
NM_021926.4(ALX4):c.385_394del (p.Cys129fs) rs387906325
NM_021926.4(ALX4):c.418C>T (p.Gln140Ter) rs104894191
NM_021926.4(ALX4):c.504del (p.Asp169fs) rs587776614
NM_021926.4(ALX4):c.569C>T (p.Pro190Leu) rs143620051
NM_021926.4(ALX4):c.620C>A (p.Ser207Ter) rs104894197
NM_021926.4(ALX4):c.646C>G (p.Arg216Gly) rs587777700
NM_021926.4(ALX4):c.736C>T (p.Gln246Ter) rs104894192
NM_021926.4(ALX4):c.787C>T (p.Gln263Ter) rs1564998718
NM_021926.4(ALX4):c.815G>C (p.Arg272Pro) rs104894196
NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs) rs587777702

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