ClinVar Miner

List of variants in gene ARSB reported as pathogenic by Medical Molecular Genetics Department, National Research Center

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Total variants: 8
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NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597

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