ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.31C>G (p.Leu11Val) rs77988381 0.00028
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala) rs201903758 0.00005
NM_000404.4(GLB1):c.27C>T (p.Leu9=) rs905194921 0.00002
NM_000404.4(GLB1):c.5C>G (p.Pro2Arg) rs779544911 0.00001
NM_000404.4(GLB1):c.66C>T (p.Arg22=) rs987707141 0.00001
NM_001039770.3(TMPPE):c.-391C>T rs766309446 0.00001
NM_000404.4(GLB1):c.12C>T (p.Phe4=)
NM_000404.4(GLB1):c.15G>T (p.Leu5=) rs755578948
NM_000404.4(GLB1):c.27C>G (p.Leu9=)
NM_000404.4(GLB1):c.31C>T (p.Leu11=) rs77988381
NM_000404.4(GLB1):c.33G>C (p.Leu11=)
NM_000404.4(GLB1):c.37C>T (p.Leu13=)
NM_000404.4(GLB1):c.42T>C (p.Val14=) rs2125591563
NM_000404.4(GLB1):c.45G>C (p.Leu15=)
NM_000404.4(GLB1):c.63G>A (p.Thr21=) rs2125591533
NM_000404.4(GLB1):c.69C>A (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.69C>G (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.6G>A (p.Pro2=)
NM_000404.4(GLB1):c.70T>C (p.Leu24=)
NM_000404.4(GLB1):c.9G>A (p.Gly3=) rs1175346838
NM_001039770.3(TMPPE):c.-392G>A rs2125591459
NM_001039770.3(TMPPE):c.-394C>G rs2125591464

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