ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-IV-A by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	rs371429653	0.00002
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)	rs767131589	0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	rs757870208	0.00001

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