List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 18

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs)	rs746835381	0.00007
NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr)	rs121918136	0.00001
NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg)	rs121918134
NM_199069.2(NDUFAF3):c.302G>A (p.Ser101Asn)
NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro)	rs121918135
NM_199069.2(NDUFAF3):c.77+1G>A

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