List of variants in gene POLRMT reported as likely pathogenic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005035.4(POLRMT):c.1753C>T (p.Gln585Ter)
NM_005035.4(POLRMT):c.2041C>T (p.Gln681Ter)
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del)	rs748846799
NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)	rs200224860
NM_005035.4(POLRMT):c.954-1G>C

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