List of variants in gene NAGLU reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	rs104894592	0.00010
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	rs992677795	0.00004
NM_000263.4(NAGLU):c.1291dup (p.Arg431fs)	rs2092926516
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)	rs2092930339
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)	rs1195831432
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)	rs747155746
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)	rs104894601
NM_000263.4(NAGLU):c.942del (p.Phe314fs)	rs2143099421

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