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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C	rs80356523
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

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