ClinVar Miner

List of variants in gene NDUFAF1 studied for Mitochondrial complex 1 deficiency, nuclear type 11

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_016013.4(NDUFAF1):c.512C>T (p.Ala171Val) rs140515254 0.00033
NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu) rs571701028 0.00005
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile) rs201452351 0.00004
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.624_625del (p.Tyr209fs)
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) rs376344575
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853

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