List of variants in gene combination LOC130064709, OPA3 reported as likely pathogenic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NM_025136.4(OPA3):c.1A>G (p.Met1Val)	rs1230629432
NM_025136.4(OPA3):c.45del (p.Ile16fs)
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)	rs1555736814
NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)

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