ClinVar Miner

List of variants in gene ASXL2 studied for Shashi-Pena syndrome

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Total variants: 10
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NM_018263.6(ASXL2):c.1225_1228del (p.Pro409fs) rs886041067
NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)
NM_018263.6(ASXL2):c.1240_1241GT[1] (p.Ser415fs)
NM_018263.6(ASXL2):c.1288G>T (p.Glu430Ter) rs886041070
NM_018263.6(ASXL2):c.2081dup (p.Gly696fs) rs886041066
NM_018263.6(ASXL2):c.2424del (p.Thr809fs) rs886041065
NM_018263.6(ASXL2):c.2472del (p.Ser825fs) rs886041068
NM_018263.6(ASXL2):c.2530G>C (p.Ala844Pro)
NM_018263.6(ASXL2):c.2971_2974del (p.Gly991fs) rs886041069
NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr) rs773402627

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