List of variants in gene HUWE1 reported as pathogenic for 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_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)	rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	rs1556914274
NM_031407.7(HUWE1):c.12091T>C (p.Tyr4031His)
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln)	rs1569399945
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)	rs1556913180
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)	rs1556909287
NM_031407.7(HUWE1):c.145-2A>G	rs1569509136
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)	rs1557006903
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)	rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)	rs1557036768
NM_031407.7(HUWE1):c.567+1G>C	rs1557024919
NM_031407.7(HUWE1):c.646-1G>A	rs2149065229
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)	rs121918526
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	rs886041876

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