List of variants in gene ASXL1 reported as likely pathogenic for central nervous system disorder

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

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)	rs373221034	0.00002
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter)	rs2011567269	0.00001
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr)	rs2011469389	0.00001
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)	rs2011568558
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs)	rs886042532
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter)	rs2123267182
NM_015338.6(ASXL1):c.1751dup (p.Val585fs)	rs748946310
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer)	rs765327792
NM_015338.6(ASXL1):c.2558del (p.Pro853fs)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)	rs1569337176
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)	rs1600592990
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)	rs1555912897
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter)	rs2011469981
NM_015338.6(ASXL1):c.69del (p.Tyr24fs)	rs2048205050

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