List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 2 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His)	rs121912638	0.00004
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp)	rs146766138	0.00002
NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln)	rs397514618	0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)	rs28939679	0.00001
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His)	rs111033588	0.00001
NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu)	rs121912639
NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp)	rs397514617

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