List of variants in gene combination LOC130064709, OPA3 reported as likely benign for 3-methylglutaconic aciduria type 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.-38A>G	rs45527139	0.02241
NM_025136.4(OPA3):c.33G>T (p.Leu11=)	rs148805518	0.00016
NM_025136.4(OPA3):c.39C>T (p.Tyr13=)	rs374843726	0.00003
NM_025136.4(OPA3):c.15G>C (p.Ala5=)	rs763315476	0.00002
NM_025136.4(OPA3):c.78T>C (p.Arg26=)	rs1372988634	0.00001
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
NM_025136.4(OPA3):c.30G>A (p.Lys10=)	rs1131692018
NM_025136.4(OPA3):c.33G>A (p.Leu11=)	rs148805518
NM_025136.4(OPA3):c.40T>C (p.Leu14=)	rs2122529532
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
NM_025136.4(OPA3):c.57C>T (p.Val19=)	rs1600010212
NM_025136.4(OPA3):c.66G>T (p.Pro22=)	rs1969906893
NM_025136.4(OPA3):c.6G>A (p.Val2=)	rs2122529689
NM_025136.4(OPA3):c.6G>C (p.Val2=)	rs2122529689
NM_025136.4(OPA3):c.72C>T (p.Ala24=)	rs1305459152
NM_025136.4(OPA3):c.75C>T (p.Asn25=)	rs2122529407

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