ClinVar Miner

List of variants reported as uncertain significance for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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ClinVar version:
Total variants: 228
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HGVS dbSNP
NC_012920.1:m.7965T>C rs1556423369
NM_001169109.1(SCO2):c.-129G>A rs886057633
NM_001169109.1(SCO2):c.-14+121C>T rs770533125
NM_001169109.1(SCO2):c.-14+470G>A rs377497287
NM_001169109.1(SCO2):c.-14+505G>A rs375309432
NM_001169109.1(SCO2):c.-14+646G>C rs145052206
NM_001169109.1(SCO2):c.-145T>G rs762630777
NM_001169109.1(SCO2):c.-178C>T rs778306525
NM_001169109.1(SCO2):c.-26G>A rs771700483
NM_001169109.1(SCO2):c.-36G>A rs764142194
NM_001302652.1(COA8):c.515+1G>A rs900628637
NM_001303.3(COX10):c.*1367G>A rs555512140
NM_001303.3(COX10):c.*13G>A rs371047487
NM_001303.3(COX10):c.*1459delC rs574015313
NM_001303.3(COX10):c.*150_*152delTTT rs200239586
NM_001303.3(COX10):c.*152T>A rs886052602
NM_001303.3(COX10):c.*408G>A rs886052603
NM_001303.3(COX10):c.*535C>A rs886052604
NM_001303.3(COX10):c.*564dupG rs886052605
NM_001303.3(COX10):c.*591_*592delAT rs886052606
NM_001303.3(COX10):c.*628C>G rs886052607
NM_001303.3(COX10):c.*646C>G rs7214082
NM_001303.3(COX10):c.*739A>G rs886052608
NM_001303.3(COX10):c.*823C>T rs886052609
NM_001303.3(COX10):c.-170C>G rs886052597
NM_001303.3(COX10):c.-24G>A rs201257809
NM_001303.3(COX10):c.-29C>A rs373184679
NM_001303.3(COX10):c.-40G>A rs376921957
NM_001303.3(COX10):c.-63C>T rs77877576
NM_001303.3(COX10):c.-90G>T rs886052598
NM_001303.3(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.3(COX10):c.173G>A (p.Arg58His) rs772223730
NM_001303.3(COX10):c.192G>A (p.Leu64=) rs569444237
NM_001303.3(COX10):c.543G>A (p.Pro181=) rs371273328
NM_001303.3(COX10):c.624+4A>G rs199668725
NM_001303.3(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_001303.3(COX10):c.909C>T (p.Ala303=) rs370260574
NM_001303.3(COX10):c.929-7C>T rs62052075
NM_001303.3(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001303.3(COX10):c.982G>A (p.Ala328Thr) rs777911169
NM_001863.5(COX6B1):c.-133A>G rs577036606
NM_001863.5(COX6B1):c.-47A>G rs886054343
NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser) rs111638609
NM_001953.4(TYMP):c.*10G>A rs369012029
NM_001953.4(TYMP):c.*3C>T rs372620403
NM_004376.5(COX15):c.*3086G>T rs1000984
NM_004376.5(COX15):c.*3210C>T rs886046598
NM_004376.5(COX15):c.*3330A>G rs769776249
NM_004376.5(COX15):c.*3647A>T rs200422911
NM_004376.5(COX15):c.*3729C>G rs886046597
NM_004376.5(COX15):c.*3755G>A rs886046596
NM_004376.5(COX15):c.*3817A>G rs76530337
NM_004376.5(COX15):c.*4110T>G rs56206689
NM_004376.5(COX15):c.*4152C>T rs886046595
NM_004376.5(COX15):c.*4218C>T rs138423739
NM_004376.5(COX15):c.*4392G>A rs764641759
NM_004376.5(COX15):c.*4435A>G rs74152722
NM_004376.5(COX15):c.*4439G>A rs201701928
NM_004376.5(COX15):c.*4441G>C rs886046594
NM_004376.5(COX15):c.*4473T>C rs10490941
NM_004376.6(COX15):c.*1020A>T rs557527426
NM_004376.6(COX15):c.*1109G>A rs762075313
NM_004376.6(COX15):c.*1286G>T rs886046605
NM_004376.6(COX15):c.*1317T>C rs886046604
NM_004376.6(COX15):c.*136T>C rs556850599
NM_004376.6(COX15):c.*1495C>G rs886046603
NM_004376.6(COX15):c.*1528A>G rs886046602
NM_004376.6(COX15):c.*1570+741_*1570+742dup rs11405417
NM_004376.6(COX15):c.*1582delT rs145731044
NM_004376.6(COX15):c.*1684A>G rs576268362
NM_004376.6(COX15):c.*1725A>G rs886046601
NM_004376.6(COX15):c.*188C>T rs886046610
NM_004376.6(COX15):c.*2074T>C rs74775778
NM_004376.6(COX15):c.*2497G>A rs886046600
NM_004376.6(COX15):c.*24T>C rs149696723
NM_004376.6(COX15):c.*256_*257del rs886046609
NM_004376.6(COX15):c.*2640T>G rs80332976
NM_004376.6(COX15):c.*2742A>G rs188328622
NM_004376.6(COX15):c.*2841G>A rs886046599
NM_004376.6(COX15):c.*2842T>C rs11190252
NM_004376.6(COX15):c.*301C>T rs886046608
NM_004376.6(COX15):c.*421C>G rs886046607
NM_004376.6(COX15):c.*520G>A rs74981084
NM_004376.6(COX15):c.*543G>A rs186244558
NM_004376.6(COX15):c.*603T>A rs145963002
NM_004376.6(COX15):c.*620G>A rs574149332
NM_004376.6(COX15):c.*677G>T rs755134012
NM_004376.6(COX15):c.*678G>T rs754063121
NM_004376.6(COX15):c.*887C>T rs886046606
NM_004376.6(COX15):c.-114A>G rs539821050
NM_004376.6(COX15):c.-133T>C rs566424487
NM_004376.6(COX15):c.-232C>T rs886046613
NM_004376.6(COX15):c.-26A>G rs2231677
NM_004376.6(COX15):c.-307C>G rs886046614
NM_004376.6(COX15):c.-338C>T rs751586131
NM_004376.6(COX15):c.-398C>A rs886046615
NM_004376.6(COX15):c.-406C>G rs11595470
NM_004376.6(COX15):c.-472T>C rs550813748
NM_004376.6(COX15):c.-602C>A rs886046616
NM_004376.6(COX15):c.-71T>C rs886046612
NM_004376.6(COX15):c.-84G>A rs574143521
NM_004376.6(COX15):c.1029C>A (p.Leu343=) rs757725009
NM_004376.6(COX15):c.107G>A (p.Arg36His) rs763754710
NM_004376.6(COX15):c.1116C>G (p.Phe372Leu) rs142892403
NM_004376.6(COX15):c.131G>A (p.Ser44Asn) rs141506146
NM_004376.6(COX15):c.161G>A (p.Gly54Glu) rs781108007
NM_004376.6(COX15):c.164G>A (p.Arg55Lys) rs777532861
NM_004376.6(COX15):c.255T>C (p.Ile85=) rs147881961
NM_004376.6(COX15):c.406G>C (p.Asp136His) rs766429756
NM_004376.6(COX15):c.582+14A>G rs79410539
NM_004376.6(COX15):c.717G>T (p.Trp239Cys) rs886046611
NM_004376.6(COX15):c.929C>G (p.Pro310Arg) rs138293000
NM_004376.6(COX15):c.988-3C>T rs745556177
NM_004589.2(SCO1):c.787A>G (p.Ile263Val) rs111708860
NM_004589.3(SCO1):c.*127A>G rs779082082
NM_004589.3(SCO1):c.*285C>T rs886052593
NM_004589.3(SCO1):c.*349C>G rs151279533
NM_004589.3(SCO1):c.*403A>G rs886052592
NM_004589.3(SCO1):c.*594A>G rs183020275
NM_004589.3(SCO1):c.*601delA rs886052591
NM_004589.3(SCO1):c.*61A>C rs886052594
NM_004589.3(SCO1):c.-49C>T rs778522503
NM_004589.3(SCO1):c.-52delA rs566330071
NM_004589.3(SCO1):c.15C>T (p.Val5=) rs780334801
NM_004589.3(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.3(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.3(SCO1):c.259C>T (p.Pro87Ser) rs757958481
NM_004589.3(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.3(SCO1):c.304T>G (p.Phe102Val) rs539094737
NM_004589.3(SCO1):c.640G>A (p.Ala214Thr) rs145764824
NM_004589.3(SCO1):c.673G>A (p.Val225Ile) rs886052595
NM_004589.3(SCO1):c.689C>T (p.Thr230Met) rs141066877
NM_004589.3(SCO1):c.868A>G (p.Ile290Val) rs139771078
NM_005138.2(SCO2):c.-114G>C rs554814235
NM_005138.2(SCO2):c.-51C>T rs886057631
NM_005138.2(SCO2):c.-83A>G rs886057632
NM_005138.2(SCO2):c.162C>T (p.Gly54=) rs139545104
NM_005138.2(SCO2):c.201C>T (p.Phe67=) rs61748568
NM_005138.2(SCO2):c.237G>A (p.Arg79=) rs150485659
NM_005138.2(SCO2):c.244A>G (p.Lys82Glu) rs765425160
NM_005138.2(SCO2):c.276A>G (p.Glu92=) rs886057630
NM_005138.2(SCO2):c.4C>G (p.Leu2Val) rs747642461
NM_005138.2(SCO2):c.738G>C (p.Ser246=) rs200605042
NM_005138.2(SCO2):c.763C>A (p.Arg255=) rs112793292
NM_014929.3(FASTKD2):c.*1010T>C rs886055510
NM_014929.3(FASTKD2):c.*1036C>T rs886055511
NM_014929.3(FASTKD2):c.*1159G>A rs575685523
NM_014929.3(FASTKD2):c.*1180G>C rs114333222
NM_014929.3(FASTKD2):c.*1202A>T rs114726254
NM_014929.3(FASTKD2):c.*1270dupA rs200366194
NM_014929.3(FASTKD2):c.*1335G>T rs886055513
NM_014929.3(FASTKD2):c.*1345G>A rs530276798
NM_014929.3(FASTKD2):c.*1438_*1449delAAAAAAAAAAAA rs58656956
NM_014929.3(FASTKD2):c.*1446A>C rs200685209
NM_014929.3(FASTKD2):c.*1452C>A rs886055515
NM_014929.3(FASTKD2):c.*1520dupG rs886055517
NM_014929.3(FASTKD2):c.*159C>A rs549535843
NM_014929.3(FASTKD2):c.*1621A>G rs548336967
NM_014929.3(FASTKD2):c.*1981C>G rs539483074
NM_014929.3(FASTKD2):c.*2009_*2010delAA rs71930000
NM_014929.3(FASTKD2):c.*2114delT rs547846330
NM_014929.3(FASTKD2):c.*2298C>T rs746695830
NM_014929.3(FASTKD2):c.*2316G>A rs576889447
NM_014929.3(FASTKD2):c.*2331C>T rs568225901
NM_014929.3(FASTKD2):c.*2335_*2336dupCA rs10655467
NM_014929.3(FASTKD2):c.*2428G>A rs775360254
NM_014929.3(FASTKD2):c.*2431C>G rs146898986
NM_014929.3(FASTKD2):c.*2630G>A rs547470657
NM_014929.3(FASTKD2):c.*2876A>G rs886055520
NM_014929.3(FASTKD2):c.*2960T>C rs147381048
NM_014929.3(FASTKD2):c.*3080C>A rs77797215
NM_014929.3(FASTKD2):c.*3112A>G rs535264688
NM_014929.3(FASTKD2):c.*3238G>A rs886055521
NM_014929.3(FASTKD2):c.*3355C>T rs186521301
NM_014929.3(FASTKD2):c.*3380G>A rs372815075
NM_014929.3(FASTKD2):c.*3472C>T rs886055522
NM_014929.3(FASTKD2):c.*3592C>T rs564472346
NM_014929.3(FASTKD2):c.*3593G>A rs150571344
NM_014929.3(FASTKD2):c.*3683G>T rs886055523
NM_014929.3(FASTKD2):c.*3710C>T rs550284931
NM_014929.3(FASTKD2):c.*3775C>T rs886055524
NM_014929.3(FASTKD2):c.*3896A>C rs886055525
NM_014929.3(FASTKD2):c.*3990G>C rs547229926
NM_014929.3(FASTKD2):c.*399T>A rs886055507
NM_014929.3(FASTKD2):c.*4142T>C rs755060762
NM_014929.3(FASTKD2):c.*4199G>C rs146262081
NM_014929.3(FASTKD2):c.*4201C>T rs531052965
NM_014929.3(FASTKD2):c.*4360A>G rs886055526
NM_014929.3(FASTKD2):c.*451C>T rs192433004
NM_014929.3(FASTKD2):c.*585G>C rs886055508
NM_014929.3(FASTKD2):c.*58G>A rs183337182
NM_014929.3(FASTKD2):c.*624C>G rs886055509
NM_014929.3(FASTKD2):c.*87A>G rs115098389
NM_014929.3(FASTKD2):c.-123T>G rs886055504
NM_014929.3(FASTKD2):c.-127G>C rs886055503
NM_014929.3(FASTKD2):c.-15A>G rs886055505
NM_014929.3(FASTKD2):c.-178T>C rs539716623
NM_014929.3(FASTKD2):c.-30T>C rs145438423
NM_014929.3(FASTKD2):c.-37C>T rs765204520
NM_014929.3(FASTKD2):c.-51+14G>A rs543042440
NM_014929.3(FASTKD2):c.-69C>T rs16838842
NM_014929.3(FASTKD2):c.-88G>A rs866957815
NM_014929.3(FASTKD2):c.1295G>A (p.Arg432Gln) rs372022584
NM_014929.3(FASTKD2):c.1428-13C>G rs761492608
NM_014929.3(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888
NM_014929.3(FASTKD2):c.1992A>C (p.Ala664=) rs149018757
NM_014929.3(FASTKD2):c.2018A>G (p.Asn673Ser) rs142211558
NM_014929.3(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176
NM_014929.3(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705
NM_014929.3(FASTKD2):c.225A>G (p.Arg75=) rs374830420
NM_014929.3(FASTKD2):c.527C>T (p.Ala176Val) rs367909050
NM_014929.3(FASTKD2):c.602G>A (p.Arg201His) rs150994958
NM_014929.3(FASTKD2):c.832G>A (p.Glu278Lys) rs886055506
NM_014929.3(FASTKD2):c.991-13G>C rs13421046
NM_014929.3:c.1021delT
NM_016360.3(TACO1):c.*230G>A rs886053235
NM_016360.3(TACO1):c.*44G>T rs191442785
NM_016360.3(TACO1):c.-163A>G rs752592967
NM_016360.3(TACO1):c.-177C>T rs540772284
NM_016360.3(TACO1):c.212G>C (p.Gly71Ala) rs886053233
NM_016360.3(TACO1):c.261C>T (p.Asn87=) rs534248303
NM_016360.3(TACO1):c.297T>G (p.Pro99=) rs778960378
NM_016360.3(TACO1):c.498T>C (p.His166=) rs17549732
NM_016360.3(TACO1):c.511A>C (p.Asn171His) rs886053234
NM_016360.3(TACO1):c.515+11G>A rs772746935
NM_016360.3(TACO1):c.765C>G (p.Ser255=) rs760058934
NM_032374.4(COA8):c.353T>C (p.Phe118Ser) rs587777786
NM_198076.4(COX20):c.157+3G>C rs367956888

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