List of variants reported as pathogenic for 3-methylglutaconic aciduria by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	rs200203460	0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)	rs121434636	0.00003
NM_001081.4(CUBN):c.1865del (p.Thr622fs)	rs386833771	0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)	rs759203841	0.00001
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)	rs386833778
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)	rs770921101
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)	rs1161400848
NM_025136.4(OPA3):c.143-1G>C	rs80356523

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