List of variants reported as pathogenic for combined oxidative phosphorylation deficiency 51

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)	rs144692694	0.00151
NM_017952.6(PTCD3):c.1453-1G>C	rs373659799
NM_017952.6(PTCD3):c.1746_1747dup (p.Phe583fs)	rs1573859565
NM_017952.6(PTCD3):c.415-2A>G	rs1301547272
NM_017952.6(PTCD3):c.710del (p.Thr237fs)	rs1674335308
NM_017952.6(PTCD3):c.902C>T (p.Thr301Ile)	rs2466560501

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