ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 12 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001008211.1(OPTN):c.1192C>T (p.Gln398Ter) rs267606928
NM_001008211.1(OPTN):c.1433A>G (p.Glu478Gly) rs267606929
OPTN, EX5DEL

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