ClinVar Miner

Variants in gene ASXL1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 51
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HGVS dbSNP gnomAD frequency
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.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.3513G>A (p.Arg1171=) rs150391716 0.00538
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.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.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.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) rs144841799 0.00022
NM_015338.6(ASXL1):c.1474G>C (p.Ala492Pro) rs145913172 0.00020
NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val) rs370804022 0.00020
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_015338.6(ASXL1):c.3379G>A (p.Asp1127Asn) rs201009558 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.1907C>T (p.Ala636Val) rs370230857 0.00007
NM_015338.6(ASXL1):c.3460G>C (p.Gly1154Arg) rs199571804 0.00006
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.2671G>A (p.Val891Ile) rs774520876 0.00003
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_015338.6(ASXL1):c.1200C>T (p.Ala400=) rs750058388 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.16AAG[3] (p.Lys9del) rs752094508
NM_015338.6(ASXL1):c.1929G>A (p.Gly643=) rs373998853
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.3635C>T (p.Ser1212Phe) rs542568224
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.4139C>G (p.Ala1380Gly)
NM_015338.6(ASXL1):c.4521G>A (p.Ala1507=)
NM_015338.6(ASXL1):c.57+19G>A rs200198574

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