ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.104-2A>G	rs2089505773
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860

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