List of variants in gene TRMT5 reported as uncertain significance for combined oxidative phosphorylation deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met)	rs114570574	0.00031
NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala)	rs2296928	0.00006
NM_020810.3(TRMT5):c.1218G>C (p.Gln406His)	rs1566589376
NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu)	rs978146113

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