ClinVar Miner

List of variants in gene SOD1 reported by OMIM

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) rs121912459 0.00002
NM_000454.5(SOD1):c.358-10T>G rs1197141604 0.00001
NM_000454.5(SOD1):c.358-11A>G rs369600566 0.00001
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys) rs121912457
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.5(SOD1):c.253T>G (p.Leu85Val) rs121912452
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe) rs121912445
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.335dup (p.Cys112fs) rs1568810771
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.357_357+2del rs2123435651
NM_000454.5(SOD1):c.358-304= rs1555836889
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) rs121912454
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) rs121912451
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr) rs121912449
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360

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