List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 11

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)	rs387906958	0.00004
NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg)	rs387906957	0.00001
NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro)	rs387906956
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)	rs376344575

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