ClinVar Miner

List of variants reported as pathogenic for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Invitae

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) rs758745099 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NC_000006.11:g.(?_158532398)_(162868359_?)del
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs) rs780275814
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
NM_032861.4(SERAC1):c.1403+1G>A rs1131690799
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs) rs886041750
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter) rs1383515185
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)

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