ClinVar Miner

List of variants in gene ARSA reported as pathogenic by Neurometabolisches Labor,University hospital Tuebingen

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Total variants: 7
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NM_000487.6(ARSA):c.1274A>G (p.His425Arg) rs1135401757
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro) rs763880042
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg) rs1135401755
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.6(ARSA):c.852T>A (p.Asn284Lys) rs1135401756
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro) rs1135401754

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