List of variants in gene combination AIFM1, RAB33A reported as uncertain significance for combined oxidative phosphorylation deficiency

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.-185G>A	rs770317876	0.00080
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)	rs201711375	0.00010
NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys)	rs1488258655	0.00002
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala)	rs1356446773	0.00001
NM_004208.4(AIFM1):c.1647A>G (p.Ala549=)	rs1057515767	0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)	rs1375125488	0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)	rs752742151	0.00001
NM_004208.4(AIFM1):c.858+13T>G	rs769724106	0.00001
NM_004208.4(AIFM1):c.*49C>T	rs1057515766
NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del)	rs2124651780
NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)
NM_004208.4(AIFM1):c.147G>C (p.Gln49His)	rs867606904
NM_004208.4(AIFM1):c.1596T>A (p.Ser532Arg)
NM_004208.4(AIFM1):c.697-4C>T	rs2030541270
NM_004208.4(AIFM1):c.782-3C>T

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