List of variants in gene HGSNAT reported as likely 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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	rs121908284	0.00001
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)	rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)	rs747616932
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)	rs1554533211

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