ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_001164603.1(ASXL1):c.217A>T (p.Lys73Ter) rs1555901138
NM_001363734.1(ASXL1):c.975_976GT[2] (p.Val327fs) rs886043994
NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711
NM_015338.5(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.5(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.5(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401
NM_015338.5(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600
NM_015338.5(ASXL1):c.3202C>T (p.Arg1068Ter) rs764651405
NM_015338.5(ASXL1):c.3700C>T (p.Gln1234Ter) rs1569337452
NM_015338.5(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) rs1555912709
NM_015338.5(ASXL1):c.4060G>T (p.Glu1354Ter) rs1569339085
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) rs1600583334
NM_015338.6(ASXL1):c.1720-1G>A
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
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.2535dup (p.Ser846fs) rs750170870

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