ClinVar Miner

List of variants in gene SOD1 reported by Centre for Genomic and Experimental Medicine, University of Edinburgh

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.437C>A (p.Ala146Asp) rs1131690781

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