ClinVar Miner

List of variants in gene ARSA reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 11
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NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.293_294insT (p.Arg99fs) rs1603445003
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.466-7G>C rs6151414
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.632T>C (p.Met211Thr)
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983

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