List of variants in gene NAGLU studied for Sanfilippo syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000263.3(NAGLU):c.-138A>G	rs76407245	0.06051
NM_000263.3(NAGLU):c.-200G>C	rs114904267	0.01366
NM_000263.3(NAGLU):c.-144G>A	rs538885425	0.00263
NM_000263.3(NAGLU):c.-167G>T	rs145830042	0.00078
NM_000263.3(NAGLU):c.-212G>C	rs538288877	0.00063
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00004
NM_000263.3(NAGLU):c.-228C>G	rs554915381	0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	rs1244655820	0.00001
NM_000263.4(NAGLU):c.*198del	rs747726415

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