ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

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Total variants: 17
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HGVS dbSNP
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.2006dup (p.Asn669fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.955+2T>G

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