List of variants reported as pathogenic for combined oxidative phosphorylation deficiency 48 by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022072.5(NSUN3):c.295C>T (p.Arg99Ter)	rs762031082	0.00001
NM_022072.5(NSUN3):c.123-615_466+2155del
NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro)	rs2077283982
NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser)	rs2077284206

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