ClinVar Miner

Variants in gene ASXL1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1420 107 0 55 35 0 2 87

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 1 0 30 9
likely benign 0 0 30 0 51
benign 0 0 9 51 0

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
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.4493C>T (p.Thr1498Met) rs150119795 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.3083C>T (p.Ser1028Leu) rs200702600 0.00014
NM_015338.6(ASXL1):c.3947G>A (p.Arg1316His) rs369419785 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.2387G>C (p.Trp796Ser) rs770674396 0.00009
NM_015338.6(ASXL1):c.4099G>A (p.Val1367Ile) rs147456014 0.00009
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) rs752770575 0.00008
NM_015338.6(ASXL1):c.1162G>A (p.Val388Ile) rs145699348 0.00007
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.812G>C (p.Arg271Pro) rs576447224 0.00006
NM_015338.6(ASXL1):c.1205G>A (p.Arg402Gln) rs755749479 0.00005
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) rs571165637 0.00005
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583 0.00004
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.3205G>A (p.Val1069Ile) rs560992020 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.3359A>T (p.Lys1120Met) rs778883995 0.00002
NM_015338.6(ASXL1):c.3487G>A (p.Asp1163Asn) rs371131434 0.00002
NM_015338.6(ASXL1):c.1200C>T (p.Ala400=) rs750058388 0.00001
NM_015338.6(ASXL1):c.141-2A>G rs768868045 0.00001
NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp) rs373685182 0.00001
NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg) rs537734228 0.00001
NM_015338.6(ASXL1):c.2417C>T (p.Thr806Ile) rs775227254 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter) rs1179121574 0.00001
NM_015338.6(ASXL1):c.1189C>T (p.Arg397Cys)
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.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1928G>T (p.Gly643Val) rs201649676
NM_015338.6(ASXL1):c.1929G>A (p.Gly643=) rs373998853
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2011G>T (p.Ala671Ser) rs1600586513
NM_015338.6(ASXL1):c.207G>T (p.Gly69=) rs748455832
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.2236G>A (p.Ala746Thr)
NM_015338.6(ASXL1):c.2616C>T (p.Cys872=)
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3050A>C (p.Asp1017Ala) rs545071926
NM_015338.6(ASXL1):c.3151C>T (p.Arg1051Cys)
NM_015338.6(ASXL1):c.3416C>A (p.Thr1139Lys)
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.3910C>G (p.Leu1304Val) rs747267907
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.3965C>T (p.Pro1322Leu)
NM_015338.6(ASXL1):c.3977C>G (p.Pro1326Arg)
NM_015338.6(ASXL1):c.4139C>G (p.Ala1380Gly)
NM_015338.6(ASXL1):c.4247A>G (p.Glu1416Gly)
NM_015338.6(ASXL1):c.4521G>A (p.Ala1507=)
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015338.6(ASXL1):c.724A>G (p.Met242Val)

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