List of variants in gene SGSH 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	rs138504221	0.00015
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)	rs377605690	0.00009
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	rs374621913	0.00003
NM_000199.5(SGSH):c.1135del (p.Val379fs)	rs777956287	0.00001
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)	rs778700037
NM_000199.5(SGSH):c.89-18_89-15del	rs768357480

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