ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs)
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.684+1G>A
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.854+1G>A
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476

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