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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.100dup (p.Ser34fs)	rs1555736803
NM_025136.4(OPA3):c.142+1G>A	rs1555736793
NM_025136.4(OPA3):c.217dup (p.Glu73fs)	rs1555732963
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	rs28937899
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp)	rs1057516497
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)	rs1555736814

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