List of variants reported as pathogenic for Mucopolysaccharidosis type 6 by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	rs118203943	0.00017
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)	rs991104525	0.00008
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter)	rs771296632
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)	rs969231209
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	rs765711776

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