ClinVar Miner

List of variants in gene NDUFAF5 studied for Mitochondrial complex I deficiency

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.849G>A (p.Ala283=) rs34901599 0.04132
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) rs147117631 0.00111
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) rs376456360 0.00018
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) rs745871040 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 0.00005
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752

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