List of variants in gene combination LOC130064709, OPA3 reported as uncertain significance 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.-7C>G	rs199590627	0.00041
NM_025136.3(OPA3):c.-96A>G	rs566870092	0.00016
NM_025136.4(OPA3):c.15G>C (p.Ala5=)	rs763315476	0.00002
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC	rs886054542
NM_025136.4(OPA3):c.11G>A (p.Gly4Asp)
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)	rs2122529643
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)	rs1555736840
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	rs1343690502
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)	rs1302916174
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
NM_025136.4(OPA3):c.81del (p.Lys28fs)

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