List of variants reported as pathogenic for Combined oxidative phosphorylation deficiency 56 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro)	rs199871047	0.00008
NM_001284401.2(TAMM41):c.329A>G (p.Tyr110Cys)	rs2125058823
NM_001284401.2(TAMM41):c.410C>T (p.Pro137Leu)
NM_001284401.2(TAMM41):c.411+1G>T	rs780204589
NM_001284401.2(TAMM41):c.709-2A>G
NM_001284401.2(TAMM41):c.806dup (p.Asn269fs)	rs768826552

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