ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)	rs1255777033	0.00002
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)	rs1554079320

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