List of variants studied for Mucopolysaccharidosis, MPS-IV-B by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	rs72555391	0.00002
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)	rs767685019	0.00002
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	rs72555365	0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)	rs72555368	0.00001
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)	rs72555362	0.00001
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)	rs72555369
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	rs72555367
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)	rs72555363
NM_000404.4(GLB1):c.247T>C (p.Tyr83His)	rs72555364
NM_000404.4(GLB1):c.75+2T>G	rs2125591484

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