ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.695G>A (p.Arg232His) rs772747361 0.00006
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu) rs377607698 0.00004
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) rs747481280 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 0.00001
NM_000454.5(SOD1):c.437C>A (p.Ala146Asp) rs1131690781
NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln) rs895824243
NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser) rs1131690775
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172

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