List of variants in gene OPA3 reported as likely pathogenic for 3-Methylglutaconic aciduria type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.227dup (p.Ala77fs)	rs1466115591	0.00001
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)	rs80356525	0.00001
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
NM_025136.4(OPA3):c.100dup (p.Ser34fs)	rs1555736803
NM_025136.4(OPA3):c.142+1G>A	rs1555736793
NM_025136.4(OPA3):c.194del (p.Gly65fs)	rs2122440638
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)	rs1475568526
NM_025136.4(OPA3):c.217dup (p.Glu73fs)	rs1555732963
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)	rs1599964721
NM_025136.4(OPA3):c.287del (p.Cys96fs)	rs2513824298
NM_025136.4(OPA3):c.411_422delinsC (p.Gln137fs)	rs2513823606
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.97C>T (p.Arg33Ter)	rs1241537518

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