ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_020919.4(ALS2):c.1250C>G (p.Ser417Ter)

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