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

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)	rs1662320308	0.00001
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter)	rs1198775988
NM_018489.3(ASH1L):c.2126dup (p.Leu709fs)	rs2148727707
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)	rs1558150870
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)	rs1553265154
NM_018489.3(ASH1L):c.3976dup (p.Ser1326fs)	rs2148721714
NM_018489.3(ASH1L):c.4065_4072del (p.Met1356fs)	rs2148721365
NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)	rs1665684529
NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
NM_018489.3(ASH1L):c.6019C>T (p.Arg2007Ter)
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter)	rs2148443341
NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)
NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)

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