ClinVar Miner

List of variants in gene FASTKD2 studied for Mitochondrial complex IV deficiency, nuclear type 1

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001136193.2(FASTKD2):c.*627T>C rs1048783 0.30015
NM_001136193.2(FASTKD2):c.*1450T>A rs201735381 0.18645
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117 0.18633
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805 0.13062
NM_001136193.2(FASTKD2):c.*2069T>A rs2193885 0.12437
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568 0.12294
NM_001136193.2(FASTKD2):c.*1475dup rs111441789 0.11989
NM_001136193.2(FASTKD2):c.*672T>A rs61672260 0.05029
NM_001136193.2(FASTKD2):c.*4009G>A rs75079512 0.03496
NM_001136193.2(FASTKD2):c.*3080C>A rs77797215 0.03493
NM_001136193.2(FASTKD2):c.*557A>G rs7559712 0.03356
NM_001136193.2(FASTKD2):c.*87A>G rs115098389 0.02973
NM_001136193.2(FASTKD2):c.*3450G>C rs141681457 0.02968
NM_001136193.2(FASTKD2):c.*1415T>G rs6755938 0.02498
NM_001136193.2(FASTKD2):c.*9T>C rs10194665 0.01553
NM_001136193.2(FASTKD2):c.1254+9A>C rs10177169 0.01315
NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser) rs79652942 0.01063
NM_001136193.2(FASTKD2):c.*2463T>C rs138682114 0.00943
NM_001136193.2(FASTKD2):c.*4266G>A rs80251300 0.00937
NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn) rs34709212 0.00843
NM_001136193.2(FASTKD2):c.*3593G>A rs150571344 0.00796
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_001136193.2(FASTKD2):c.*1180G>C rs114333222 0.00439
NM_001136193.2(FASTKD2):c.*1202A>T rs114726254 0.00422
NM_001136193.2(FASTKD2):c.*3355C>T rs186521301 0.00398
NM_001136193.2(FASTKD2):c.*3710C>T rs550284931 0.00303
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598 0.00289
NM_001136193.2(FASTKD2):c.*2960T>C rs147381048 0.00287
NM_001136193.2(FASTKD2):c.-30T>C rs145438423 0.00261
NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705 0.00251
NM_001136193.2(FASTKD2):c.*3502G>A rs563957358 0.00243
NM_001136193.2(FASTKD2):c.*58G>A rs183337182 0.00224
NM_001136193.2(FASTKD2):c.*1345G>A rs530276798 0.00211
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser) rs142211558 0.00196
NM_001136193.2(FASTKD2):c.*1295C>G rs191791478 0.00186
NM_001136193.2(FASTKD2):c.*2431C>G rs146898986 0.00179
NM_001136193.2(FASTKD2):c.*451C>T rs192433004 0.00163
NM_001136193.2(FASTKD2):c.*3121T>G rs147995587 0.00162
NM_001136193.2(FASTKD2):c.*2331C>T rs568225901 0.00146
NM_001136193.2(FASTKD2):c.*1446A>C rs200685209 0.00117
NM_001136193.2(FASTKD2):c.*328T>C rs2241346 0.00115
NM_001136193.2(FASTKD2):c.*3730C>T rs529411873 0.00071
NM_001136193.2(FASTKD2):c.*1578C>T rs955295480 0.00061
NM_001136193.2(FASTKD2):c.*2107T>G rs538336281 0.00054
NM_001136193.2(FASTKD2):c.*3470C>T rs181028470 0.00054
NM_001136193.2(FASTKD2):c.*4199G>C rs146262081 0.00051
NM_001136193.2(FASTKD2):c.*4222A>T rs539338030 0.00041
NM_001136193.2(FASTKD2):c.*2630G>A rs547470657 0.00034
NM_001136193.2(FASTKD2):c.*1883T>G rs138267671 0.00033
NM_001136193.2(FASTKD2):c.*3559G>A rs529315003 0.00029
NM_001136193.2(FASTKD2):c.*3592C>T rs564472346 0.00029
NM_001136193.2(FASTKD2):c.1389C>T (p.Tyr463=) rs200425724 0.00029
NM_001136193.2(FASTKD2):c.*2374C>T rs745387138 0.00021
NM_001136193.2(FASTKD2):c.*257G>A rs569494509 0.00021
NM_001136193.2(FASTKD2):c.*4326C>T rs950430575 0.00019
NM_001136193.2(FASTKD2):c.*2085G>C rs149228072 0.00016
NM_001136193.2(FASTKD2):c.*4201C>T rs531052965 0.00016
NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) rs373432793 0.00015
NM_001136193.2(FASTKD2):c.*2298C>T rs746695830 0.00014
NM_001136193.2(FASTKD2):c.*585G>C rs886055508 0.00014
NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val) rs140778319 0.00014
NM_001136193.2(FASTKD2):c.*4142T>C rs755060762 0.00013
NM_001136193.2(FASTKD2):c.*1579G>A rs531381311 0.00012
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_001136193.2(FASTKD2):c.*2428G>A rs775360254 0.00011
NM_001136193.2(FASTKD2):c.*3112A>G rs535264688 0.00011
NM_001136193.2(FASTKD2):c.*3380G>A rs372815075 0.00011
NM_001136193.2(FASTKD2):c.*1159G>A rs575685523 0.00010
NM_001136193.2(FASTKD2):c.*3990G>C rs547229926 0.00009
NM_001136193.2(FASTKD2):c.*1700A>G rs974415646 0.00008
NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His) rs150994958 0.00008
NM_001136193.2(FASTKD2):c.*2316G>A rs576889447 0.00006
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888 0.00006
NM_001136193.2(FASTKD2):c.*159C>A rs549535843 0.00005
NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=) rs369427864 0.00005
NM_001136193.2(FASTKD2):c.945G>A (p.Lys315=) rs768043175 0.00005
NM_001136193.2(FASTKD2):c.*3231G>A rs955655976 0.00004
NM_001136193.2(FASTKD2):c.*3775C>T rs886055524 0.00004
NM_001136193.2(FASTKD2):c.-37C>T rs765204520 0.00004
NM_001136193.2(FASTKD2):c.1295G>A (p.Arg432Gln) rs372022584 0.00004
NM_001136193.2(FASTKD2):c.*1158C>T rs947729535 0.00003
NM_001136193.2(FASTKD2):c.*1716A>G rs968012351 0.00003
NM_001136193.2(FASTKD2):c.*3238G>A rs886055521 0.00003
NM_001136193.2(FASTKD2):c.*3318G>C rs753130942 0.00003
NM_001136193.2(FASTKD2):c.*3542C>A rs1028232504 0.00003
NM_001136193.2(FASTKD2):c.*799C>A rs1043843484 0.00003
NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176 0.00003
NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val) rs367909050 0.00003
NM_001136193.2(FASTKD2):c.*1464C>T rs1006854280 0.00002
NM_001136193.2(FASTKD2):c.*2021G>A rs766799925 0.00002
NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) rs202102918 0.00002
NM_001136193.2(FASTKD2):c.684G>C (p.Gln228His) rs182441753 0.00002
NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) rs368819721 0.00002
NM_001136193.2(FASTKD2):c.*1010T>C rs886055510 0.00001
NM_001136193.2(FASTKD2):c.*1036C>T rs886055511 0.00001
NM_001136193.2(FASTKD2):c.*1621A>G rs548336967 0.00001
NM_001136193.2(FASTKD2):c.*2141G>T rs572558874 0.00001
NM_001136193.2(FASTKD2):c.*2994A>G rs1229454153 0.00001
NM_001136193.2(FASTKD2):c.*3135T>C rs979062090 0.00001
NM_001136193.2(FASTKD2):c.*3297C>G rs1219321533 0.00001
NM_001136193.2(FASTKD2):c.*3472C>T rs886055522 0.00001
NM_001136193.2(FASTKD2):c.*4237A>G rs80327159 0.00001
NM_001136193.2(FASTKD2):c.*4360A>G rs886055526 0.00001
NM_001136193.2(FASTKD2):c.1034G>A (p.Ser345Asn) rs559922267 0.00001
NM_001136193.2(FASTKD2):c.1427+12T>G rs766699825 0.00001
NM_001136193.2(FASTKD2):c.1428-13C>G rs761492608 0.00001
NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter) rs755068980 0.00001
NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) rs1204974208 0.00001
NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) rs374830420 0.00001
NM_001136193.2(FASTKD2):c.485A>G (p.Glu162Gly) rs764238281 0.00001
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
NM_001136193.2(FASTKD2):c.999C>T (p.Ala333=) rs1191297892 0.00001
NM_001136193.2(FASTKD2):c.*104A>G rs1690296763
NM_001136193.2(FASTKD2):c.*1270dup rs200366194
NM_001136193.2(FASTKD2):c.*1335G>T rs886055513
NM_001136193.2(FASTKD2):c.*1406G>A rs1254118064
NM_001136193.2(FASTKD2):c.*1438_*1449del rs58656956
NM_001136193.2(FASTKD2):c.*1452C>A rs886055515
NM_001136193.2(FASTKD2):c.*1494A>T rs890863510
NM_001136193.2(FASTKD2):c.*1520dup rs886055517
NM_001136193.2(FASTKD2):c.*1981C>G rs539483074
NM_001136193.2(FASTKD2):c.*2009_*2010del rs71930000
NM_001136193.2(FASTKD2):c.*2114del rs547846330
NM_001136193.2(FASTKD2):c.*2323CA[8] rs10655467
NM_001136193.2(FASTKD2):c.*2346C>T rs1690377680
NM_001136193.2(FASTKD2):c.*2488T>C rs6435351
NM_001136193.2(FASTKD2):c.*2876A>G rs886055520
NM_001136193.2(FASTKD2):c.*2885C>G rs1377432705
NM_001136193.2(FASTKD2):c.*2937A>C rs1690396063
NM_001136193.2(FASTKD2):c.*2997A>T rs1690398490
NM_001136193.2(FASTKD2):c.*3429G>A rs1033300928
NM_001136193.2(FASTKD2):c.*3453A>T rs1690414724
NM_001136193.2(FASTKD2):c.*3677G>T rs115714249
NM_001136193.2(FASTKD2):c.*3683G>T rs886055523
NM_001136193.2(FASTKD2):c.*3862C>T rs1295793391
NM_001136193.2(FASTKD2):c.*3896A>C rs886055525
NM_001136193.2(FASTKD2):c.*399T>A rs886055507
NM_001136193.2(FASTKD2):c.*624C>G rs886055509
NM_001136193.2(FASTKD2):c.*813G>A rs577136391
NM_001136193.2(FASTKD2):c.-15A>G rs886055505
NM_001136193.2(FASTKD2):c.1021del (p.Ser341fs) rs1559360466
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001136193.2(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_001136193.2(FASTKD2):c.1630G>A (p.Asp544Asn) rs535280179
NM_001136193.2(FASTKD2):c.1865A>G (p.Asp622Gly) rs751773316
NM_001136193.2(FASTKD2):c.1898G>T (p.Arg633Ile) rs1574675756
NM_001136193.2(FASTKD2):c.1992A>C (p.Ala664=) rs149018757
NM_001136193.2(FASTKD2):c.2041G>A (p.Glu681Lys) rs1690290911
NM_001136193.2(FASTKD2):c.452C>T (p.Pro151Leu) rs1689529600
NM_001136193.2(FASTKD2):c.991-13G>A rs13421046
NM_001136193.2(FASTKD2):c.991-13G>C rs13421046

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