List of variants reported as pathogenic for 3-Methylglutaconic aciduria type 2 by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000116.5(TAFAZZIN):c.109+5G>C	rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G	rs1603376833
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	rs104894941
NM_000116.5(TAFAZZIN):c.239-1G>A	rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C	rs1603377590
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)	rs104894942
NM_000116.5(TAFAZZIN):c.284+110G>A	rs1603377747
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)	rs104894937
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)	rs132630277
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)	rs1603381671
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)	rs2148212610
NM_000116.5(TAFAZZIN):c.647-1G>C	rs587776741
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)	rs387907218

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