List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-IV-B by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.75+2dup	rs587776525	0.00021
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	rs72555392	0.00004
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)	rs769781778	0.00002
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	rs72555372	0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	rs72555358	0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	rs776327443	0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	rs794727165	0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	rs376663785	0.00001
NM_000404.4(GLB1):c.1077del (p.Val360fs)	rs727503952
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs)	rs1304277420
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	rs192732174

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