ClinVar Miner

List of variants in gene SGSH reported as uncertain significance 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
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_000199.5(SGSH):c.1328G>A (p.Arg443Gln)	rs377605690	0.00009
NM_000199.5(SGSH):c.89-18_89-15del	rs768357480

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