ClinVar Miner

List of variants in gene ASXL1 reported as benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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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.1633C>T (p.Arg545Cys) rs137920574 0.00028
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.2802T>C (p.Ala934=) rs571165637 0.00005
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.3273C>T (p.Ala1091=) rs377353179 0.00002
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015338.6(ASXL1):c.*90T>C rs2295763
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.57+19G>A rs200198574

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