List of variants in gene NUS1 reported as likely pathogenic for Intellectual disability, autosomal dominant 55, with seizures

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_138459.5(NUS1):c.220_244del (p.Gly74fs)	rs2481983096
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)	rs2114674308
NM_138459.5(NUS1):c.314dup (p.Thr106fs)
NM_138459.5(NUS1):c.415+2_415+3insCGTAGGT	rs2481983991
NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)	rs2482014062
NM_138459.5(NUS1):c.640A>T (p.Lys214Ter)
NM_138459.5(NUS1):c.677dup (p.Leu226fs)	rs2482016210
NM_138459.5(NUS1):c.692-2A>G	rs2114693876
NM_138459.5(NUS1):c.792-2A>G	rs2482037745
NM_138459.5(NUS1):c.861T>A (p.Cys287Ter)

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