ClinVar Miner

List of variants in gene SGSH reported as pathogenic by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002

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