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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)	rs782498694	0.00003
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.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)	rs2131844929
NM_001081.4(CUBN):c.4350+5G>A	rs200324164
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)

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