ClinVar Miner

List of variants in gene ASXL1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.719-100C>T rs2295765 0.79423
NM_015338.6(ASXL1):c.140+26A>G rs2295454 0.35246
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) rs4911231 0.34448
NM_015338.6(ASXL1):c.253-288T>C rs2281542 0.34338
NM_015338.6(ASXL1):c.979+243T>C rs6141720 0.34327
NM_015338.6(ASXL1):c.*22A>G rs2295764 0.33221
NM_015338.6(ASXL1):c.252+2778A>G rs2424879 0.31513
NC_000020.11:g.32358199G>A rs114950455 0.02883
NM_015338.6(ASXL1):c.566-198A>G rs73244991 0.02854
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.02807
NM_015338.6(ASXL1):c.472-22T>C rs4911230 0.02677
NM_015338.6(ASXL1):c.582C>T (p.His194=) rs116633791 0.02660
NM_015338.6(ASXL1):c.2985C>T (p.His995=) rs62206933 0.02455
NM_015338.6(ASXL1):c.141-330A>G rs73241269 0.02312
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 0.01055
NM_015338.6(ASXL1):c.565+211T>C rs7260822 0.01035
NM_015338.6(ASXL1):c.-282C>T rs530763476 0.00921
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00875
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.144-261A>T rs183850160 0.00798
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_015338.6(ASXL1):c.979+216T>C rs77652696 0.00626
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.1719+235A>G rs116728541 0.00297
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00172
NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=) rs149359320 0.00156
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625 0.00131
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_015338.6(ASXL1):c.-4A>G rs771767100 0.00127
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525 0.00127
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) rs149971443 0.00117
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) rs146747814 0.00113
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648 0.00113
NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn) rs138971201 0.00079
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00078
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00073
NM_015338.6(ASXL1):c.3935C>T (p.Ala1312Val) rs148144203 0.00073
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) rs201280462 0.00069
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00057
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262 0.00055
NM_015338.6(ASXL1):c.1923C>T (p.Ile641=) rs551524526 0.00042
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) rs143779557 0.00032
NM_015338.6(ASXL1):c.2337T>G (p.Pro779=) rs143613684 0.00031
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.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) rs144841799 0.00024
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795 0.00024
NM_015338.6(ASXL1):c.1474G>C (p.Ala492Pro) rs145913172 0.00020
NM_015338.6(ASXL1):c.2423C>A (p.Pro808His) rs141610022 0.00018
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_015338.6(ASXL1):c.4494G>A (p.Thr1498=) rs138417690 0.00014
NM_015338.6(ASXL1):c.3315C>T (p.Asn1105=) rs145371680 0.00012
NM_015338.6(ASXL1):c.1654A>G (p.Ile552Val) rs143952412 0.00011
NM_015338.6(ASXL1):c.2537G>A (p.Ser846Asn) rs148575778 0.00010
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) rs148597247 0.00010
NM_015338.6(ASXL1):c.1383G>A (p.Leu461=) rs370914837 0.00009
NM_015338.6(ASXL1):c.472-5C>T rs766901686 0.00009
NM_015338.6(ASXL1):c.246G>A (p.Thr82=) rs140562623 0.00007
NM_015338.6(ASXL1):c.3151C>T (p.Arg1051Cys) rs768333722 0.00007
NM_015338.6(ASXL1):c.2820G>A (p.Leu940=) rs201554973 0.00006
NM_015338.6(ASXL1):c.3217C>T (p.Arg1073Cys) rs549552934 0.00006
NM_015338.6(ASXL1):c.812G>C (p.Arg271Pro) rs576447224 0.00006
NM_015338.6(ASXL1):c.1205G>A (p.Arg402Gln) rs755749479 0.00005
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser) rs770674396 0.00005
NM_015338.6(ASXL1):c.3487G>A (p.Asp1163Asn) rs371131434 0.00005
NM_015338.6(ASXL1):c.1200C>T (p.Ala400=) rs750058388 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.1737C>T (p.Ile579=) rs765846020 0.00003
NM_015338.6(ASXL1):c.2475A>G (p.Lys825=) rs768237627 0.00003
NM_015338.6(ASXL1):c.2942A>G (p.Glu981Gly) rs763987748 0.00003
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) rs752770575 0.00003
NM_015338.6(ASXL1):c.3800C>A (p.Thr1267Asn) rs368889231 0.00003
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_015338.6(ASXL1):c.1495C>T (p.Arg499Cys) rs376089258 0.00002
NM_015338.6(ASXL1):c.1710G>A (p.Pro570=) rs769545573 0.00002
NM_015338.6(ASXL1):c.1802C>T (p.Thr601Met) rs778606251 0.00002
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_015338.6(ASXL1):c.2571G>T (p.Leu857=) rs775732401 0.00002
NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=) rs377353179 0.00002
NM_015338.6(ASXL1):c.3359A>T (p.Lys1120Met) rs778883995 0.00002
NM_015338.6(ASXL1):c.1076A>G (p.Tyr359Cys) rs754808303 0.00001
NM_015338.6(ASXL1):c.1282C>T (p.Gln428Ter) rs886041975 0.00001
NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp) rs373685182 0.00001
NM_015338.6(ASXL1):c.1742C>T (p.Pro581Leu) rs775928560 0.00001
NM_015338.6(ASXL1):c.1762C>T (p.Gln588Ter) rs1486082302 0.00001
NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg) rs537734228 0.00001
NM_015338.6(ASXL1):c.1A>C (p.Met1Leu) rs2122754733 0.00001
NM_015338.6(ASXL1):c.203A>G (p.Glu68Gly) rs1214819445 0.00001
NM_015338.6(ASXL1):c.2219C>T (p.Thr740Ile) rs773075570 0.00001
NM_015338.6(ASXL1):c.2417C>T (p.Thr806Ile) rs775227254 0.00001
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015338.6(ASXL1):c.3665C>T (p.Ser1222Phe) rs1600592545 0.00001
NM_015338.6(ASXL1):c.3801T>C (p.Thr1267=) rs1182909497 0.00001
NM_015338.6(ASXL1):c.4072C>G (p.Pro1358Ala) rs554525759 0.00001
NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter) rs1179121574 0.00001
NM_015338.6(ASXL1):c.4308C>G (p.Ile1436Met) rs748596785 0.00001
NC_000020.11:g.32358304del rs780760915
NM_015338.6(ASXL1):c.*90T>C rs2295763
NM_015338.6(ASXL1):c.1086-12T>C rs2123251449
NM_015338.6(ASXL1):c.1127_1132del (p.Gly376_Gln377del)
NM_015338.6(ASXL1):c.114dup (p.Glu39fs) rs1555900832
NM_015338.6(ASXL1):c.1406dup (p.Ser470fs) rs1555911496
NM_015338.6(ASXL1):c.1412C>G (p.Ser471Cys) rs2123262118
NM_015338.6(ASXL1):c.1433del (p.Gly478fs) rs1555911508
NM_015338.6(ASXL1):c.1445C>T (p.Pro482Leu) rs2123263264
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.1465C>T (p.Arg489Trp) rs142172134
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.1569dup (p.Arg524fs) rs2123267274
NM_015338.6(ASXL1):c.1591G>A (p.Ala531Thr) rs1964495687
NM_015338.6(ASXL1):c.1638G>T (p.Gln546His)
NM_015338.6(ASXL1):c.1683G>A (p.Gln561=) rs2123270851
NM_015338.6(ASXL1):c.16AAG[3] (p.Lys9del) rs752094508
NM_015338.6(ASXL1):c.1723C>G (p.Gln575Glu)
NM_015338.6(ASXL1):c.1746_1751del (p.Trp583_Val584del)
NM_015338.6(ASXL1):c.1751T>C (p.Val584Ala) rs2145356379
NM_015338.6(ASXL1):c.1773C>G (p.Tyr591Ter) rs371369583
NM_015338.6(ASXL1):c.1776G>T (p.Gln592His)
NM_015338.6(ASXL1):c.1829G>A (p.Gly610Asp) rs940521669
NM_015338.6(ASXL1):c.1856C>T (p.Ala619Val) rs2145357756
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter) rs111316898
NM_015338.6(ASXL1):c.1933G>A (p.Gly645Ser) rs2011676360
NM_015338.6(ASXL1):c.1933G>T (p.Gly645Cys) rs2011676360
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.1996G>T (p.Gly666Cys)
NM_015338.6(ASXL1):c.1997dup (p.Gly666_Asp667insTer) rs2145360404
NM_015338.6(ASXL1):c.2027A>G (p.Glu676Gly) rs2145361127
NM_015338.6(ASXL1):c.2042C>G (p.Pro681Arg) rs2145361451
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.2110G>T (p.Gly704Trp) rs151317625
NM_015338.6(ASXL1):c.2186G>C (p.Ser729Thr)
NM_015338.6(ASXL1):c.2258C>G (p.Pro753Arg) rs2515561631
NM_015338.6(ASXL1):c.229C>T (p.Arg77Ter) rs1375830737
NM_015338.6(ASXL1):c.230G>A (p.Arg77Gln) rs2048254049
NM_015338.6(ASXL1):c.2477del (p.Gly826fs) rs1064796100
NM_015338.6(ASXL1):c.2518C>T (p.Pro840Ser) rs2011750704
NM_015338.6(ASXL1):c.2544A>T (p.Thr848=) rs142836262
NM_015338.6(ASXL1):c.2616C>T (p.Cys872=) rs779837740
NM_015338.6(ASXL1):c.2698C>G (p.Pro900Ala) rs2145371700
NM_015338.6(ASXL1):c.2790G>A (p.Trp930Ter) rs1569333361
NM_015338.6(ASXL1):c.2792A>G (p.Glu931Gly) rs2515571467
NM_015338.6(ASXL1):c.2810del (p.Pro937fs) rs1064793988
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.2922C>A (p.Tyr974Ter) rs886039722
NM_015338.6(ASXL1):c.2966_2967del (p.Asp988_Ser989insTer) rs1064796772
NM_015338.6(ASXL1):c.296G>T (p.Gly99Val) rs2123208988
NM_015338.6(ASXL1):c.3010G>T (p.Asp1004Tyr)
NM_015338.6(ASXL1):c.3028A>G (p.Thr1010Ala) rs2515575387
NM_015338.6(ASXL1):c.3039_3045dup (p.Ala1016delinsGlnTer) rs1555912392
NM_015338.6(ASXL1):c.3041G>A (p.Ser1014Asn) rs762976045
NM_015338.6(ASXL1):c.3144_3145del (p.Asp1049fs) rs886039670
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter) rs764651405
NM_015338.6(ASXL1):c.3227T>C (p.Ile1076Thr) rs2515577770
NM_015338.6(ASXL1):c.3238C>T (p.Leu1080=) rs1475879168
NM_015338.6(ASXL1):c.3329A>G (p.Gln1110Arg)
NM_015338.6(ASXL1):c.3388A>G (p.Met1130Val)
NM_015338.6(ASXL1):c.3452C>G (p.Ser1151Cys) rs2011850783
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs) rs1555912648
NM_015338.6(ASXL1):c.3839T>A (p.Ile1280Asn) rs1327515633
NM_015338.6(ASXL1):c.3843C>A (p.Ser1281=) rs2145388338
NM_015338.6(ASXL1):c.3868G>A (p.Ala1290Thr) rs2145388752
NM_015338.6(ASXL1):c.3894_3897dup (p.Gln1300fs) rs1057518458
NM_015338.6(ASXL1):c.3910C>G (p.Leu1304Val) rs747267907
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.3969G>A (p.Met1323Ile)
NM_015338.6(ASXL1):c.397A>T (p.Asn133Tyr) rs2515492155
NM_015338.6(ASXL1):c.403T>C (p.Ser135Pro)
NM_015338.6(ASXL1):c.4079C>T (p.Pro1360Leu) rs750648431
NM_015338.6(ASXL1):c.4101del (p.Lys1368fs) rs2515589412
NM_015338.6(ASXL1):c.4108G>A (p.Glu1370Lys)
NM_015338.6(ASXL1):c.4118_4134del (p.Thr1372_Phe1373insTer) rs2145392365
NM_015338.6(ASXL1):c.4122G>C (p.Val1374=) rs372643354
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.4196dup (p.Leu1399fs) rs1600594932
NM_015338.6(ASXL1):c.4198G>T (p.Glu1400Ter) rs1555912930
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter) rs754129466
NM_015338.6(ASXL1):c.4274_4275del (p.Leu1425fs) rs1463049576
NM_015338.6(ASXL1):c.4312C>T (p.Gln1438Ter) rs1555912974
NM_015338.6(ASXL1):c.4334C>G (p.Ser1445Cys)
NM_015338.6(ASXL1):c.4360T>A (p.Phe1454Ile) rs2515592894
NM_015338.6(ASXL1):c.4421T>C (p.Leu1474Pro) rs1057522762
NM_015338.6(ASXL1):c.4435A>T (p.Asn1479Tyr) rs1417907059
NM_015338.6(ASXL1):c.4439T>G (p.Phe1480Cys) rs1479344658
NM_015338.6(ASXL1):c.4466C>G (p.Ser1489Cys) rs1205345035
NM_015338.6(ASXL1):c.4475T>C (p.Met1492Thr)
NM_015338.6(ASXL1):c.4486A>G (p.Ser1496Gly)
NM_015338.6(ASXL1):c.4521G>T (p.Ala1507=) rs760605807
NM_015338.6(ASXL1):c.4611C>G (p.Cys1537Trp) rs376413080
NM_015338.6(ASXL1):c.471+89A>G rs3818190
NM_015338.6(ASXL1):c.477C>A (p.Asn159Lys) rs1019881696
NM_015338.6(ASXL1):c.53G>T (p.Arg18Leu) rs2122755072
NM_015338.6(ASXL1):c.542G>A (p.Gly181Glu)
NM_015338.6(ASXL1):c.557C>T (p.Ser186Phe) rs2123217767
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015338.6(ASXL1):c.57+219dup rs545230525
NM_015338.6(ASXL1):c.590_592del (p.Gly197del)
NM_015338.6(ASXL1):c.733A>C (p.Asn245His) rs2011506329
NM_015338.6(ASXL1):c.844C>G (p.Gln282Glu) rs2123235086
NM_015338.6(ASXL1):c.936_941delinsAAA (p.Phe312_Thr314delinsLeuAsn)

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