List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-IV-A by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)	rs118204442	0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	rs770053354	0.00002
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	rs398123430	0.00001
NM_000512.5(GALNS):c.1070del (p.Pro357fs)	rs2142995810
NM_000512.5(GALNS):c.121-1G>A	rs1312522259
NM_000512.5(GALNS):c.283A>G (p.Asn95Asp)

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