ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)
NM_032861.4(SERAC1):c.1684+1G>T rs2128410576
NM_032861.4(SERAC1):c.1684+2T>C
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs) rs1785136807
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) rs1583589537
NM_032861.4(SERAC1):c.91+6T>C rs1554265452

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