ClinVar Miner

List of variants in gene ALX4 reported as uncertain significance for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_021926.4(ALX4):c.*2991G>A rs556132435 0.00186
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.*3241C>G rs550434819 0.00063
NM_021926.4(ALX4):c.*867C>T rs746147000 0.00054
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.*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.*2469T>C rs886048293 0.00016
NM_021926.4(ALX4):c.*1003C>A rs776365654 0.00015
NM_021926.4(ALX4):c.*3134G>A rs766967309 0.00011
NM_021926.4(ALX4):c.*1408G>T rs886048300 0.00010
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.1185C>G (p.Ala395=) rs751941183 0.00006
NM_021926.4(ALX4):c.1206G>A (p.Glu402=) rs375068808 0.00006
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.*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.*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.561G>T (p.Val187=) rs774556630 0.00001
NM_021926.4(ALX4):c.620C>T (p.Ser207Leu) rs104894197 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.*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.*2939C>A rs1035301125
NM_021926.4(ALX4):c.*3033G>C rs886048287
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.*562C>G rs1035739473
NM_021926.4(ALX4):c.*573C>T rs554752826
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.*962C>T rs552527026
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.569C>T (p.Pro190Leu) rs143620051
NM_021926.4(ALX4):c.787C>T (p.Gln263Ter) rs1564998718

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