ClinVar Miner

List of variants in gene ARSA reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
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.960G>A (p.Trp320Ter) rs1375757476

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