ClinVar Miner

List of variants in gene combination GLB1, LOC129936434, TMPPE reported as uncertain significance for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.40G>C (p.Val14Leu) rs376500233 0.00014
NM_001039770.3(TMPPE):c.-398A>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.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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