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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)	rs201101343	0.00005
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	rs118203941	0.00002
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)	rs1554079311
NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter)	rs2112617391
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)	rs1554069655
NM_000046.5(ARSB):c.300_312+18del	rs2112580593
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)	rs2112530498
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)	rs762614315

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