ClinVar Miner

List of variants in gene ARSB reported as pathogenic by OMIM

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Total variants: 12
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HGVS dbSNP
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.238del (p.Val80fs) rs431905493
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939
NM_000046.5(ARSB):c.410G>T (p.Gly137Val) rs118203938
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.743del (p.Pro248fs) rs431905494

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