List of variants studied for Combined oxidative phosphorylation deficiency 55 by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn)	rs139383492	0.00323
NM_005035.4(POLRMT):c.2428C>T (p.Pro810Ser)	rs201364510	0.00119
NM_005035.4(POLRMT):c.748C>G (p.His250Asp)	rs137994680	0.00020
NM_005035.4(POLRMT):c.2641-1G>C	rs778201827	0.00006
NM_005035.4(POLRMT):c.445C>T (p.Gln149Ter)	rs750698432	0.00001
NM_005035.4(POLRMT):c.1832C>T (p.Ser611Phe)	rs2144625053
NM_005035.4(POLRMT):c.1923C>G (p.Phe641Leu)	rs748687181
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del)	rs748846799
NM_005035.4(POLRMT):c.2775C>A (p.Cys925Ter)	rs55752843
NM_005035.4(POLRMT):c.3037C>T (p.Arg1013Cys)	rs745348188
NM_005035.4(POLRMT):c.[1696C>T;3578C>T]

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