List of variants in gene ASH1L reported as pathogenic for autosomal dominant non-syndromic intellectual disability

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_018489.3(ASH1L):c.6238G>A (p.Val2080Ile)	rs749494995	0.00002
NM_018489.3(ASH1L):c.1013C>A (p.Ser338Ter)	rs1665984696
NM_018489.3(ASH1L):c.1959del (p.Lys653fs)
NM_018489.3(ASH1L):c.2170G>T (p.Ala724Ser)	rs1293246328
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs)	rs1558148010
NM_018489.3(ASH1L):c.3705del (p.Glu1236fs)	rs1553265189
NM_018489.3(ASH1L):c.491del (p.Arg164fs)
NM_018489.3(ASH1L):c.5325C>A (p.Cys1775Ter)
NM_018489.3(ASH1L):c.5569_5585del (p.Pro1857fs)
NM_018489.3(ASH1L):c.6427G>T (p.Glu2143Ter)	rs1553247374
NM_018489.3(ASH1L):c.6640C>T (p.Arg2214Ter)
NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA (p.Cys2268fs)	rs1553245038
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_018489.3(ASH1L):c.7764_7768dup (p.Asp2590fs)	rs1553242856
NM_018489.3(ASH1L):c.8356G>C (p.Ala2786Pro)	rs1553241570
NM_018489.3(ASH1L):c.8854dup (p.Arg2952fs)	rs775592405

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