List of variants reported as pathogenic for 3-methylglutaconic aciduria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	rs144484373	0.00002
NM_001698.3(AUH):c.263-2A>G	rs730880311	0.00001
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)

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