ClinVar Miner

List of variants in gene IDS reported as pathogenic for Mucopolysaccharidosis type 2, severe form

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_000202.8(IDS):c.1403G>A (p.Arg468Gln)	rs113993946	0.00001
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu)	rs113993946

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