ClinVar Miner

List of variants in gene SGSH reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)	rs144862290	0.00172
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	rs34520362

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