ClinVar Miner

List of variants in gene NDUFAF4 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_014165.4(NDUFAF4):c.*382T>A rs1971475 0.90137
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_014165.4(NDUFAF4):c.*332A>T rs10499008 0.28157
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762 0.23921
NM_014165.4(NDUFAF4):c.*301T>A rs1854268 0.23899
NM_014165.4(NDUFAF4):c.*323A>T rs9487453 0.08584
NM_014165.4(NDUFAF4):c.*350A>C rs41288598 0.04940
NM_014165.4(NDUFAF4):c.*387C>T rs41288596 0.03489
NM_014165.4(NDUFAF4):c.*639A>C rs11759571 0.03170
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090 0.02639
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016 0.02302
NM_014165.4(NDUFAF4):c.*1299G>A rs73758053 0.01451
NM_014165.4(NDUFAF4):c.*1214G>A rs17057099 0.01241
NM_014165.4(NDUFAF4):c.*482A>G rs56240093 0.00378
NM_014165.4(NDUFAF4):c.*782T>C rs190211537 0.00260
NM_014165.4(NDUFAF4):c.*294T>G rs555318888 0.00233
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168 0.00171
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378 0.00138
NM_014165.4(NDUFAF4):c.*459A>G rs560563894 0.00108
NM_014165.4(NDUFAF4):c.*119T>C rs113099906 0.00081
NM_014165.4(NDUFAF4):c.*690G>A rs181915821 0.00071
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958 0.00064
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421 0.00064
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819 0.00053
NM_014165.4(NDUFAF4):c.*1368A>G rs563778638 0.00046
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928 0.00045
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471 0.00042
NM_014165.4(NDUFAF4):c.*986A>C rs192839240 0.00022
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411 0.00016
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922 0.00005
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516 0.00005
NM_014165.4(NDUFAF4):c.*1213C>T rs1456765249 0.00004
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) rs372832376 0.00004
NM_014165.4(NDUFAF4):c.*1334G>A rs763941216 0.00003
NM_014165.4(NDUFAF4):c.-49C>T rs372635399 0.00003
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825 0.00002
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824 0.00002
NM_014165.4(NDUFAF4):c.-65C>G rs1463385663 0.00002
NM_014165.4(NDUFAF4):c.*1728G>A rs1775284209 0.00001
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823 0.00001
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) rs760918613 0.00001
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1247A>G rs1775290779
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*14A>C rs1775308769
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*289C>T rs143895125
NM_014165.4(NDUFAF4):c.*305C>A rs576437181
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.-20G>T rs1186295770
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) rs1775313687

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