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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)	rs1833438306
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs)	rs774772178
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro)	rs2131520977
NM_001008212.2(OPTN):c.436C>T (p.Gln146Ter)	rs2131488944
NM_001008212.2(OPTN):c.780-2A>C	rs768117011
NM_001008212.2(OPTN):c.875dup (p.Glu293fs)	rs1833371664
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs)	rs786205611

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