List of variants in gene combination GLB1, LOC129936434, TMPPE reported as uncertain significance for mucopolysaccharidosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.-25C>G	rs368944274	0.00037
NM_000404.4(GLB1):c.40G>C (p.Val14Leu)	rs376500233	0.00014
NM_000404.4(GLB1):c.75+3A>G	rs369627064	0.00004
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)	rs772539129	0.00003
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)	rs1484753571	0.00001
NM_000404.4(GLB1):c.-17C>T	rs1233290104
NM_000404.4(GLB1):c.-35T>G	rs886058344
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)	rs772539129
NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)

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