ClinVar Miner

List of variants reported as likely pathogenic for amyotrophic lateral sclerosis type 1 by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys) rs766653950 0.00001
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
NM_000454.5(SOD1):c.143T>C (p.Val48Ala) rs1568809169
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000454.5(SOD1):c.19T>G (p.Cys7Gly) rs1312702973
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser) rs121912436
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.263T>C (p.Val88Ala) rs1339283341
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys) rs1301635320
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.437C>T (p.Ala146Val) rs1131690781
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.43G>C (p.Val15Leu) rs1568807400
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
NM_000454.5(SOD1):c.44T>G (p.Val15Gly) rs1202989817
NM_000454.5(SOD1):c.49G>T (p.Gly17Cys) rs121912453
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu) rs1555836170
NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)
NM_000454.5(SOD1):c.69G>C (p.Gln23His) rs1424217272
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)

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