ClinVar Miner

List of variants in gene GUSB reported as pathogenic for Mucopolysaccharidosis type 6

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_000181.4(GUSB):c.526C>T (p.Leu176Phe)	rs121918181	0.00007
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)	rs1434169374	0.00001

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