List of variants reported as likely pathogenic for Combined oxidative phosphorylation deficiency 32

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00071
NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys)	rs1313473522	0.00001
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)	rs1131692037
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)

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