ClinVar Miner

List of variants in gene ASXL1 studied for brain disorder

Included ClinVar conditions (1840):
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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.719-100C>T rs2295765 0.78948
NM_015338.6(ASXL1):c.140+26A>G rs2295454 0.34485
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) rs4911231 0.34448
NM_015338.6(ASXL1):c.*22A>G rs2295764 0.33221
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.03000
NM_015338.6(ASXL1):c.582C>T (p.His194=) rs116633791 0.02852
NM_015338.6(ASXL1):c.2985C>T (p.His995=) rs62206933 0.02455
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile) rs6058693 0.02141
NM_015338.6(ASXL1):c.2250C>T (p.Pro750=) rs35712951 0.01615
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057 0.00841
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454 0.00568
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538
NM_015338.6(ASXL1):c.1965C>T (p.Thr655=) rs79865730 0.00535
NM_015338.6(ASXL1):c.540C>T (p.Asn180=) rs74346706 0.00341
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=) rs149359320 0.00156
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625 0.00137
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525 0.00127
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) rs146747814 0.00126
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) rs149971443 0.00123
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648 0.00113
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00081
NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn) rs138971201 0.00079
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) rs201280462 0.00069
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262 0.00060
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00059
NM_015338.6(ASXL1):c.1923C>T (p.Ile641=) rs551524526 0.00042
NM_015338.6(ASXL1):c.2337T>G (p.Pro779=) rs143613684 0.00033
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) rs143779557 0.00032
NM_015338.6(ASXL1):c.3351C>A (p.Pro1117=) rs373603259 0.00029
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) rs137920574 0.00028
NM_015338.6(ASXL1):c.*1556_*1557del rs770877952 0.00026
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795 0.00024
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) rs144841799 0.00022
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) rs148597247 0.00010
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) rs752770575 0.00008
NM_015338.6(ASXL1):c.2618C>T (p.Pro873Leu) rs202098158 0.00006
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) rs571165637 0.00005
NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062 0.00004
NM_015338.6(ASXL1):c.3621C>G (p.Val1207=) rs781523302 0.00004
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) rs373126831 0.00003
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val) rs988568801 0.00002
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=) rs377353179 0.00002
NM_015338.6(ASXL1):c.3401C>T (p.Pro1134Leu) rs367744979 0.00002
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) rs2011567269 0.00001
NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly) rs1161459110 0.00001
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401 0.00001
NM_015338.6(ASXL1):c.314C>T (p.Thr105Met) rs749495615 0.00001
NM_015338.6(ASXL1):c.3212C>T (p.Ala1071Val) rs531415735 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) rs2011469389 0.00001
NM_015338.6(ASXL1):c.*90T>C rs2295763
NM_015338.6(ASXL1):c.-88GCC[5] rs886056593
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys)
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) rs886043994
NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu) rs2011593291
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs) rs886042532
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) rs1600583334
NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) rs2123267182
NM_015338.6(ASXL1):c.1610A>G (p.Glu537Gly) rs2123268579
NM_015338.6(ASXL1):c.1693G>C (p.Glu565Gln) rs2123271125
NM_015338.6(ASXL1):c.1698G>C (p.Glu566Asp)
NM_015338.6(ASXL1):c.1719+1G>A rs1311986203
NM_015338.6(ASXL1):c.1720-1G>A rs1254271466
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val) rs2011649912
NM_015338.6(ASXL1):c.1751dup (p.Val585fs) rs748946310
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter) rs111316898
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1928G>C (p.Gly643Ala) rs201649676
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser) rs2145361163
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
NM_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro)
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) rs1555901138
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2302dup (p.Gln768fs)
NM_015338.6(ASXL1):c.2309C>T (p.Ser770Leu)
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) rs765327792
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) rs1600588199
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) rs1600588239
NM_015338.6(ASXL1):c.2456del (p.Gly819fs)
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015338.6(ASXL1):c.2544A>T (p.Thr848=) rs142836262
NM_015338.6(ASXL1):c.2558del (p.Pro853fs)
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs) rs2145372935
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)
NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly)
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter) rs764651405
NM_015338.6(ASXL1):c.3302T>A (p.Val1101Glu) rs2145379665
NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg) rs2011847101
NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter) rs757040754
NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser) rs199571804
NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe)
NM_015338.6(ASXL1):c.3565G>A (p.Ala1189Thr)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter) rs1569337452
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) rs1555912709
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) rs1600592990
NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser)
NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu) rs2145389443
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly) rs773951405
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala)
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) rs763386297
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) rs1569339085
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del) rs752856195
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.4136A>C (p.Lys1379Thr)
NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp)
NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val)
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)
NM_015338.6(ASXL1):c.4281_4282delinsGC (p.Ser1428Pro) rs2145394485
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) rs1203207717
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg) rs750955319
NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?)) rs2145398075
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) rs2011469981
NM_015338.6(ASXL1):c.69del (p.Tyr24fs) rs2048205050

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