ClinVar Miner

List of variants in gene ARSA reported as likely pathogenic by Invitae

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Total variants: 15
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HGVS dbSNP
NM_000487.6(ARSA):c.1036del (p.Ala346fs) rs1555900463
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895
NM_000487.6(ARSA):c.1269del (p.Ala424fs)
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)
NM_000487.6(ARSA):c.160C>G (p.Leu54Val)
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg) rs199476375
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)
NM_000487.6(ARSA):c.854+1G>A
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418

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