ClinVar Miner

List of variants reported as likely pathogenic for Motor neuron disease

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Total variants: 11
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HGVS dbSNP
NM_000454.4(SOD1):c.437C>A (p.Ala146Asp) rs1131690781
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) rs747481280
NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln) rs895824243
NM_012224.3(NEK1):c.1705T>A (p.Phe569Ile) rs776098853
NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.3(NEK1):c.3056C>T (p.Ser1019Leu) rs377607698
NM_012224.3(NEK1):c.386T>G (p.Ile129Ser) rs1131690775
NM_012224.3(NEK1):c.695G>A (p.Arg232His) rs772747361
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241

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