List of variants in gene NAGLU reported as pathogenic for Inborn genetic diseases

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)	rs138387856	0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	rs1244655820	0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)	rs746006696	0.00001
NM_000263.4(NAGLU):c.1608_1609dup (p.Phe537fs)
NM_000263.4(NAGLU):c.886del (p.Leu296fs)	rs752131463

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