List of variants reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 16

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024120.5(NDUFAF5):c.479+5G>A	rs367847398	0.00007
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile)	rs572478240	0.00004
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)	rs141758325	0.00003
NM_024120.5(NDUFAF5):c.970G>A (p.Ala324Thr)	rs142611230	0.00003
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)	rs778575439
NM_024120.5(NDUFAF5):c.172T>G (p.Trp58Gly)	rs1980768478
NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp)	rs761333847
NM_024120.5(NDUFAF5):c.327+3A>G
NM_024120.5(NDUFAF5):c.328-3C>T
NM_024120.5(NDUFAF5):c.577A>G (p.Thr193Ala)
NM_024120.5(NDUFAF5):c.743A>C (p.Tyr248Ser)
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)	rs1040187200
NM_024120.5(NDUFAF5):c.827G>C (p.Arg276Pro)
NM_024120.5(NDUFAF5):c.837G>A (p.Met279Ile)
NM_024120.5(NDUFAF5):c.866T>C (p.Met289Thr)
NM_024120.5(NDUFAF5):c.946-2A>C

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