List of variants in gene NUS1 reported as benign 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_138459.5(NUS1):c.-16T>C	rs9767451	0.94753
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro)	rs539668656	0.00122
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu)	rs28362519	0.00030
NM_138459.5(NUS1):c.732C>T (p.Phe244=)	rs142549647	0.00011
NM_138459.5(NUS1):c.416-23_416-7del	rs780531527
NM_138459.5(NUS1):c.542-14_542-11del	rs777604444
NM_138459.5(NUS1):c.621T>C (p.Phe207=)
NM_138459.5(NUS1):c.691+12dup	rs1241006666
NM_138459.5(NUS1):c.849A>G (p.Gln283=)	rs550676

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