List of variants reported as pathogenic for Mucopolysaccharidosis type 6 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	rs1554032217
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
NM_000046.5(ARSB):c.438del (p.Trp146fs)
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)	rs891298440

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