List of variants in gene ASXL1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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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.1282C>T (p.Gln428Ter)	rs886041975	0.00001
NM_015338.6(ASXL1):c.1762C>T (p.Gln588Ter)	rs1486082302	0.00001
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)	rs397515401	0.00001
NM_015338.6(ASXL1):c.1406dup (p.Ser470fs)	rs1555911496
NM_015338.6(ASXL1):c.1433del (p.Gly478fs)	rs1555911508
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)	rs777537805
NM_015338.6(ASXL1):c.1569dup (p.Arg524fs)	rs2123267274
NM_015338.6(ASXL1):c.1773C>G (p.Tyr591Ter)	rs371369583
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)	rs111316898
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015338.6(ASXL1):c.2477del (p.Gly826fs)	rs1064796100
NM_015338.6(ASXL1):c.2790G>A (p.Trp930Ter)	rs1569333361
NM_015338.6(ASXL1):c.2810del (p.Pro937fs)	rs1064793988
NM_015338.6(ASXL1):c.2922C>A (p.Tyr974Ter)	rs886039722
NM_015338.6(ASXL1):c.2966_2967del (p.Asp988_Ser989insTer)	rs1064796772
NM_015338.6(ASXL1):c.3144_3145del (p.Asp1049fs)	rs886039670
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)	rs764651405
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs)	rs1555912648
NM_015338.6(ASXL1):c.3894_3897dup (p.Gln1300fs)	rs1057518458
NM_015338.6(ASXL1):c.4118_4134del (p.Thr1372_Phe1373insTer)	rs2145392365
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)	rs1555912897
NM_015338.6(ASXL1):c.4196dup (p.Leu1399fs)	rs1600594932
NM_015338.6(ASXL1):c.4198G>T (p.Glu1400Ter)	rs1555912930
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter)	rs754129466

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