ClinVar Miner

List of variants in gene SOD1 reported as pathogenic for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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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.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_000454.5(SOD1):c.269C>T (p.Ala90Val) rs1280042397 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
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.449T>C (p.Ile150Thr) rs1424014997 0.00001
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.112G>C (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.197A>G (p.Asn66Ser)
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
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.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
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>A (p.Gly94Asp) rs121912438
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
NM_000454.5(SOD1):c.304G>C (p.Asp102His) rs1568810715
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) rs1378590183
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe) rs121912440
NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.358-304= rs1555836889
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly) rs1568811366
NM_000454.5(SOD1):c.374A>T (p.Asp125Val) rs1568811366
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) rs121912454
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) rs121912451
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys) rs1804449
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) rs1482760341
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) rs1555836950
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
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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