ClinVar Miner

List of variants in gene combination ARSB, LOC129994126 reported as benign for Mucopolysaccharidosis type 6

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.312+15del

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