ClinVar Miner

List of variants reported as likely pathogenic for amyotrophic lateral sclerosis by Centogene AG - the Rare Disease Company

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala) rs1164911383
NM_014845.6(FIG4):c.2376+2T>G rs756308787
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter) rs2131463657
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) rs1689584119

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