ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-B

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Total variants: 7
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HGVS dbSNP
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880

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