ClinVar Miner

List of variants in gene ASXL1 reported as pathogenic for Bohring-Opitz syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_015338.6(ASXL1):c.2644C>T (p.Gln882Ter) rs770209084 0.00001
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401 0.00001
NM_015338.6(ASXL1):c.2929C>T (p.Gln977Ter) rs1366953593 0.00001
NM_015338.6(ASXL1):c.1091del (p.Gly364fs)
NM_015338.6(ASXL1):c.1109C>G (p.Ser370Ter) rs780526428
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) rs886043994
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs) rs2515535483
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) rs1600583334
NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs) rs2011609101
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.1636C>T (p.Gln546Ter)
NM_015338.6(ASXL1):c.1719+1G>A rs1311986203
NM_015338.6(ASXL1):c.1720-1G>A rs1254271466
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val) rs2011649912
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter) rs111316898
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) rs1555901138
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2302dup (p.Gln768fs) rs2515562198
NM_015338.6(ASXL1):c.2367_2368del (p.Cys789_Glu790delinsTer) rs2515563035
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) rs1600588199
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) rs1600588239
NM_015338.6(ASXL1):c.2456del (p.Gly819fs) rs2515564525
NM_015338.6(ASXL1):c.2461dup (p.Asp821fs) rs2515564652
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs) rs2145372935
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter) rs2515571395
NM_015338.6(ASXL1):c.2982del (p.His995fs)
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter) rs764651405
NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter) rs757040754
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter) rs1569337452
NM_015338.6(ASXL1):c.374-1G>A
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) rs1555912709
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs) rs2515587165
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) rs763386297
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) rs1569339085
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs) rs2515591610
NM_015338.6(ASXL1):c.472-2A>G

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