ClinVar Miner

List of variants in gene ASXL1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.540C>T (p.Asn180=) rs74346706 0.00341
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.2337T>G (p.Pro779=) rs143613684 0.00031
NM_015338.6(ASXL1):c.3351C>A (p.Pro1117=) rs373603259 0.00029
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795 0.00024
NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val) rs370804022 0.00019
NM_015338.6(ASXL1):c.2592C>T (p.Asp864=) rs147278940 0.00017
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_015338.6(ASXL1):c.3379G>A (p.Asp1127Asn) rs201009558 0.00015
NM_015338.6(ASXL1):c.4115C>G (p.Thr1372Ser) rs201989261 0.00015
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.1383G>A (p.Leu461=) rs370914837 0.00009
NM_015338.6(ASXL1):c.4099G>A (p.Val1367Ile) rs147456014 0.00009
NM_015338.6(ASXL1):c.472-5C>T rs766901686 0.00009
NM_015338.6(ASXL1):c.472-4G>A rs370731960 0.00007
NM_015338.6(ASXL1):c.2820G>A (p.Leu940=) rs201554973 0.00006
NM_015338.6(ASXL1):c.3460G>C (p.Gly1154Arg) rs199571804 0.00006
NM_015338.6(ASXL1):c.3416C>A (p.Thr1139Lys) rs371545683 0.00005
NM_015338.6(ASXL1):c.1189C>T (p.Arg397Cys) rs369058266 0.00004
NM_015338.6(ASXL1):c.3966G>A (p.Pro1322=) rs147326327 0.00004
NM_015338.6(ASXL1):c.4281T>G (p.Pro1427=) rs144014492 0.00004
NM_015338.6(ASXL1):c.4282T>C (p.Ser1428Pro) rs150925693 0.00004
NM_015338.6(ASXL1):c.2670C>T (p.Leu890=) rs140299198 0.00003
NM_015338.6(ASXL1):c.2671G>A (p.Val891Ile) rs774520876 0.00003
NM_015338.6(ASXL1):c.4557C>T (p.Cys1519=) rs547168439 0.00003
NM_015338.6(ASXL1):c.724A>G (p.Met242Val) rs765190948 0.00003
NM_015338.6(ASXL1):c.1908G>A (p.Ala636=) rs562455536 0.00002
NM_015338.6(ASXL1):c.4407A>G (p.Gly1469=) rs751551731 0.00002
NM_015338.6(ASXL1):c.1911C>T (p.Ala637=) rs1472398458 0.00001
NM_015338.6(ASXL1):c.2236G>A (p.Ala746Thr) rs759026497 0.00001
NM_015338.6(ASXL1):c.2431A>G (p.Asn811Asp) rs752916428 0.00001
NM_015338.6(ASXL1):c.3050A>C (p.Asp1017Ala) rs545071926 0.00001
NM_015338.6(ASXL1):c.3205G>A (p.Val1069Ile) rs560992020 0.00001
NM_015338.6(ASXL1):c.3405A>G (p.Gln1135=) rs761096720 0.00001
NM_015338.6(ASXL1):c.396G>A (p.Ser132=) rs1323334775 0.00001
NM_015338.6(ASXL1):c.474G>A (p.Ala158=) rs1475343959 0.00001
NM_015338.6(ASXL1):c.1426C>T (p.Leu476=) rs2123262620
NM_015338.6(ASXL1):c.1618C>G (p.Pro540Ala) rs1023881021
NM_015338.6(ASXL1):c.16AAG[3] (p.Lys9del) rs752094508
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.2110G>T (p.Gly704Trp) rs151317625
NM_015338.6(ASXL1):c.2307C>G (p.Thr769=) rs2145366116
NM_015338.6(ASXL1):c.2340G>A (p.Gln780=) rs2515562614
NM_015338.6(ASXL1):c.2496C>T (p.Asp832=) rs2145368108
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.2997G>C (p.Thr999=)
NM_015338.6(ASXL1):c.3579C>T (p.Ala1193=) rs2145383946
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_015338.6(ASXL1):c.3666C>T (p.Ser1222=)
NM_015338.6(ASXL1):c.3965C>T (p.Pro1322Leu)
NM_015338.6(ASXL1):c.3977C>G (p.Pro1326Arg) rs757562094
NM_015338.6(ASXL1):c.57+470A>C

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