List of variants reported as pathogenic for Motor neuron disease by Centre for Genomic and Experimental Medicine, University of Edinburgh

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	rs142812715	0.00007
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	rs121912441	0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	rs80356719	0.00001
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)	rs121912431
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)	rs121912437
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)	rs121912439
NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val)	rs1131690782

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