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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln)	rs757107215	0.00001
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)	rs267606928
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)	rs267606929
NM_001008212.2(OPTN):c.166+349_370-945del

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