ClinVar Miner

List of variants in gene GLB1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000404.4(GLB1):c.734-8A>G rs398123357 0.00003
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1918G>T (p.Asp640Tyr) rs398123352 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.1068G>A (p.Lys356=) rs794726980
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.385G>A (p.Glu129Lys) rs886042079
NM_000404.4(GLB1):c.647T>C (p.Val216Ala) rs886042815
NM_000404.4(GLB1):c.809A>C (p.Tyr270Ser) rs371546950

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