ClinVar Miner

List of variants in gene ARSA reported as likely pathogenic for not provided

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Total variants: 6
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NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.926A>T (p.Glu309Val) rs1085308016
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382

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