ClinVar Miner

List of variants in gene SOD1 reported as pathogenic for amyotrophic lateral sclerosis type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000454.4(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.4(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.4(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.4(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.4(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.4(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.4(SOD1):c.137T>G (p.Phe46Cys) rs121912457
NM_000454.4(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.4(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.4(SOD1):c.14C>T (p.Ala5Val) rs121912442
NM_000454.4(SOD1):c.20G>T (p.Cys7Phe) rs121912448
NM_000454.4(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.4(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.4(SOD1):c.253T>G (p.Leu85Val) rs121912452
NM_000454.4(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.4(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000454.4(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.4(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.4(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.4(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.4(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.4(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.4(SOD1):c.341T>C (p.Ile114Thr) rs121912441
NM_000454.4(SOD1):c.358-10T>G
NM_000454.4(SOD1):c.358-11A>G
NM_000454.4(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_000454.4(SOD1):c.380T>A (p.Leu127Ter) rs121912454
NM_000454.4(SOD1):c.404G>A (p.Ser135Asn) rs121912451
NM_000454.4(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.4(SOD1):c.435G>C (p.Leu145Phe) rs1482760341
NM_000454.4(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.4(SOD1):c.455T>C (p.Ile152Thr) rs121912449
NM_000454.4(SOD1):c.49G>A (p.Gly17Ser) rs121912453
NM_000454.4(SOD1):c.64G>A (p.Glu22Lys) rs121912450
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe)
SOD1, 6-BP DEL, GGACCA
SOD1, IVS4AS, C-G, -304

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