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

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Total variants: 10

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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.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_032861.4(SERAC1):c.1167_1170del	rs772296795
NM_032861.4(SERAC1):c.1403+1G>C	rs1131690799
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del)	rs1199625391
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)	rs1554261079
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs)	rs767780913
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)	rs761964407
NM_032861.4(SERAC1):c.438del (p.Thr147fs)	rs1583595091
NM_032861.4(SERAC1):c.91+6T>C	rs1554265452

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