ClinVar Miner

List of variants in gene NAGLU reported as pathogenic for Sanfilippo syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00004
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	rs1244655820	0.00001

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