List of variants reported as pathogenic for Shashi-Pena syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_018263.6(ASXL2):c.1225_1228del (p.Pro409fs)	rs886041067
NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)	rs1574395479
NM_018263.6(ASXL2):c.1242_1243del (p.Ser415fs)	rs1574395471
NM_018263.6(ASXL2):c.1288G>T (p.Glu430Ter)	rs886041070
NM_018263.6(ASXL2):c.1840C>T (p.Arg614Ter)
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.2485C>T (p.Gln829Ter)	rs1574390728
NM_018263.6(ASXL2):c.2971_2974del (p.Gly991fs)	rs886041069

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