ClinVar Miner

List of variants in gene SERAC1 reported as pathogenic for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

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Total variants: 12
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HGVS dbSNP
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-239G>C rs1562458915

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