List of variants reported as likely pathogenic for 3-methylglutaconic aciduria by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_032861.4(SERAC1):c.1763del (p.Val588fs)	rs770661156	0.00004
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NM_001258392.3(CLPB):c.455+1G>A	rs1856507751
NM_025136.4(OPA3):c.142+1G>A	rs1555736793
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
NM_025136.4(OPA3):c.217dup (p.Glu73fs)	rs1555732963
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
NM_025136.4(OPA3):c.287del (p.Cys96fs)
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.411_422delinsC (p.Gln137fs)
NM_025136.4(OPA3):c.45del (p.Ile16fs)
NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)

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