List of variants in gene HGSNAT 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)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.493+1G>A	rs193066451	0.00013
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)	rs756310864	0.00004
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)	rs775078211	0.00003
NM_152419.3(HGSNAT):c.1250+1G>A	rs398124544	0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	rs753355844	0.00002
NM_152419.3(HGSNAT):c.372-2A>G	rs483352896	0.00002
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	rs121908285	0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)	rs747240928	0.00001
NM_152419.3(HGSNAT):c.234+1G>A	rs483352908	0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)	rs1563366896	0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	rs121908282	0.00001
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	rs1804565177
NM_152419.3(HGSNAT):c.1378-1G>A	rs1804617510
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	rs370717845
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)	rs1085307880

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