List of variants reported as not provided for 3-methylglutaconic aciduria

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00133
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	rs200203460	0.00003
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)	rs786205138	0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)	rs200032855	0.00003
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)	rs1445523438	0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)	rs786205137	0.00001
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)	rs748915609	0.00001
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)	rs1478893955	0.00001
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg)	rs886041118
NM_001258392.3(CLPB):c.1595del (p.Ile532fs)	rs876657402
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)	rs150857620
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)	rs748010262
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys)	rs375934856
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)	rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs)	rs886041119
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn)	rs886041120
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)	rs777202372
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)	rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)	rs777313457
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)	rs786205139
NM_025136.4(OPA3):c.143-1G>C	rs80356523
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)	rs80356526
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	rs28937899
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	rs1343690502
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu)	rs376922578
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)	rs145786060

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