ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 16

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.264-108A>G rs6042362 0.76777
NM_024120.5(NDUFAF5):c.263+81T>G rs6042361 0.17325
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_024120.5(NDUFAF5):c.479+5G>A rs367847398 0.00007
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024120.5(NDUFAF5):c.480-3T>G rs749288299 0.00006
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.775C>T (p.Gln259Ter) rs755097467 0.00003
NM_024120.5(NDUFAF5):c.970G>A (p.Ala324Thr) rs142611230 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.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.223-907A>C rs1186667603 0.00001
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter) rs368690277 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly) rs377078447
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570
NM_024120.5(NDUFAF5):c.165_166del (p.Lys56fs)
NM_024120.5(NDUFAF5):c.172T>G (p.Trp58Gly) rs1980768478
NM_024120.5(NDUFAF5):c.183_190dup (p.Glu64fs)
NM_024120.5(NDUFAF5):c.204del (p.Phe68fs)
NM_024120.5(NDUFAF5):c.222+8_222+15del rs3831170
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752
NM_024120.5(NDUFAF5):c.223-2A>T
NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp) rs761333847
NM_024120.5(NDUFAF5):c.23G>A (p.Trp8Ter)
NM_024120.5(NDUFAF5):c.24G>A (p.Trp8Ter)
NM_024120.5(NDUFAF5):c.29T>A (p.Leu10Ter)
NM_024120.5(NDUFAF5):c.30_31del (p.Cys11fs)
NM_024120.5(NDUFAF5):c.327+2T>C
NM_024120.5(NDUFAF5):c.327+3A>G
NM_024120.5(NDUFAF5):c.328-3C>T
NM_024120.5(NDUFAF5):c.37C>T (p.Arg13Ter)
NM_024120.5(NDUFAF5):c.380dup (p.Asn127fs)
NM_024120.5(NDUFAF5):c.408dup (p.Ser137fs)
NM_024120.5(NDUFAF5):c.440del (p.Phe147fs)
NM_024120.5(NDUFAF5):c.445G>T (p.Glu149Ter)
NM_024120.5(NDUFAF5):c.44G>A (p.Trp15Ter) rs576780935
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) rs267606689
NM_024120.5(NDUFAF5):c.479+1G>A
NM_024120.5(NDUFAF5):c.489G>A (p.Trp163Ter)
NM_024120.5(NDUFAF5):c.520-1G>C
NM_024120.5(NDUFAF5):c.552dup (p.Ile185fs)
NM_024120.5(NDUFAF5):c.577A>G (p.Thr193Ala)
NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs) rs1555834773
NM_024120.5(NDUFAF5):c.600del (p.Leu201fs)
NM_024120.5(NDUFAF5):c.679del (p.His227fs)
NM_024120.5(NDUFAF5):c.690del (p.Arg231fs)
NM_024120.5(NDUFAF5):c.711dup (p.Thr238fs)
NM_024120.5(NDUFAF5):c.717+1G>A
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_024120.5(NDUFAF5):c.743A>C (p.Tyr248Ser)
NM_024120.5(NDUFAF5):c.752T>G (p.Met251Arg)
NM_024120.5(NDUFAF5):c.779-1G>C
NM_024120.5(NDUFAF5):c.782T>C (p.Met261Thr)
NM_024120.5(NDUFAF5):c.803G>A (p.Trp268Ter)
NM_024120.5(NDUFAF5):c.804del (p.Ala267_Trp268insTer)
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024120.5(NDUFAF5):c.826C>T (p.Arg276Ter)
NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)
NM_024120.5(NDUFAF5):c.827G>C (p.Arg276Pro)
NM_024120.5(NDUFAF5):c.837G>A (p.Met279Ile)
NM_024120.5(NDUFAF5):c.85delinsAA (p.Val29fs)
NM_024120.5(NDUFAF5):c.866T>C (p.Met289Thr)
NM_024120.5(NDUFAF5):c.877G>T (p.Glu293Ter)
NM_024120.5(NDUFAF5):c.926G>A (p.Trp309Ter)
NM_024120.5(NDUFAF5):c.945+1G>A
NM_024120.5(NDUFAF5):c.946-2A>C

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