ClinVar Miner

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

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Total variants: 4
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NM_000404.3(GLB1):c.1004C>T (p.Ala335Val) rs398123347
NM_000404.3(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.3(GLB1):c.901G>A (p.Ala301Thr) rs727503954
NM_000404.4(GLB1):c.817_818delTGinsCT (p.Trp273Leu)

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