ClinVar Miner

List of variants in gene ARSB reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809

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