List of variants reported as pathogenic for 3-methylglutaconic aciduria type 3

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.9:g.(?_46056772)_(46088022_?)del
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C	rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC	rs1969382362
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	rs80356525
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)	rs80356526
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	rs1969907819
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	rs28937899
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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