List of variants in gene LOC130064709, OPA3 studied for 3-Methylglutaconic aciduria type 3

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_025136.3(OPA3):c.-75G>A	rs45598532	0.06140
NM_025136.3(OPA3):c.-86G>A	rs73570932	0.04481
NM_025136.4(OPA3):c.-38A>G	rs45527139	0.02241
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_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC	rs886054542
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)	rs1555736840
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	rs1969907819
NM_025136.4(OPA3):c.45del (p.Ile16fs)	rs2501240893
NM_025136.4(OPA3):c.55del (p.Val19fs)
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)	rs1555736814
NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)	rs2513861253

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