List of variants reported as pathogenic for mucopolysaccharidosis type 4A by Centogene AG - the Rare Disease Company

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	rs559063128	0.00001
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	rs267606838
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	rs760300454
NM_000512.5(GALNS):c.498C>G (p.His166Gln)	rs1301198698

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