List of variants in gene NUS1 reported as likely pathogenic for congenital disorder of glycosylation, type IAA

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)	rs150953098	0.00012
NM_138459.5(NUS1):c.-118_159del (p.Met1fs)
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)
NM_138459.5(NUS1):c.542-1G>T
NM_138459.5(NUS1):c.692-1G>A	rs1582477100
NM_138459.5(NUS1):c.692-2A>G	rs2114693876
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)	rs2114696019
NM_138459.5(NUS1):c.869G>A (p.Arg290His)	rs886037858

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