ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-IV-A by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	rs770053354	0.00002
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	rs760300454

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