List of variants reported as likely pathogenic for 3-methylglutaconic aciduria type 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NC_000019.10:g.45529163G>A	rs1555730159
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)	rs1225701554
NM_025136.4(OPA3):c.142+5G>C	rs1250409781
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.308_312del (p.Arg103fs)

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