ClinVar Miner

List of variants in gene ASXL2 reported as pathogenic for Shashi-Pena syndrome

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NC_000002.12:g.25750314_25750315CA[1]
NC_000002.12:g.25750328T>A
NM_018263.6(ASXL2):c.1225_1228del (p.Pro409fs) rs886041067
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.2971_2974del (p.Gly991fs) rs886041069

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