ClinVar Miner

List of variants in gene CPO, FASTKD2 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 47
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HGVS dbSNP
NM_001136193.2(FASTKD2):c.*1159G>A rs575685523
NM_001136193.2(FASTKD2):c.*1180G>C rs114333222
NM_001136193.2(FASTKD2):c.*1202A>T rs114726254
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117
NM_001136193.2(FASTKD2):c.*1270dup rs200366194
NM_001136193.2(FASTKD2):c.*1345G>A rs530276798
NM_001136193.2(FASTKD2):c.*1438_*1449del rs58656956
NM_001136193.2(FASTKD2):c.*1475dup rs111441789
NM_001136193.2(FASTKD2):c.*1520dup rs886055517
NM_001136193.2(FASTKD2):c.*2009_*2010del rs71930000
NM_001136193.2(FASTKD2):c.*2069T>A rs2193885
NM_001136193.2(FASTKD2):c.*2114del rs547846330
NM_001136193.2(FASTKD2):c.*2316G>A rs576889447
NM_001136193.2(FASTKD2):c.*2331C>T rs568225901
NM_001136193.2(FASTKD2):c.*2431C>G rs146898986
NM_001136193.2(FASTKD2):c.*2630G>A rs547470657
NM_001136193.2(FASTKD2):c.*2960T>C rs147381048
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805
NM_001136193.2(FASTKD2):c.*3080C>A rs77797215
NM_001136193.2(FASTKD2):c.*3355C>T rs186521301
NM_001136193.2(FASTKD2):c.*3380G>A rs372815075
NM_001136193.2(FASTKD2):c.*3592C>T rs564472346
NM_001136193.2(FASTKD2):c.*3593G>A rs150571344
NM_001136193.2(FASTKD2):c.*3710C>T rs550284931
NM_001136193.2(FASTKD2):c.*4199G>C rs146262081
NM_001136193.2(FASTKD2):c.*4201C>T rs531052965
NM_001136194.1(FASTKD2):c.*1010T>C rs886055510
NM_001136194.1(FASTKD2):c.*1036C>T rs886055511
NM_001136194.1(FASTKD2):c.*1335G>T rs886055513
NM_001136194.1(FASTKD2):c.*1446A>C rs200685209
NM_001136194.1(FASTKD2):c.*1452C>A rs886055515
NM_001136194.1(FASTKD2):c.*1621A>G rs548336967
NM_001136194.1(FASTKD2):c.*1981C>G rs539483074
NM_001136194.1(FASTKD2):c.*2298C>T rs746695830
NM_001136194.1(FASTKD2):c.*2323_*2324CA[8] rs10655467
NM_001136194.1(FASTKD2):c.*2428G>A rs775360254
NM_001136194.1(FASTKD2):c.*2488T>C rs6435351
NM_001136194.1(FASTKD2):c.*2876A>G rs886055520
NM_001136194.1(FASTKD2):c.*3112A>G rs535264688
NM_001136194.1(FASTKD2):c.*3238G>A rs886055521
NM_001136194.1(FASTKD2):c.*3472C>T rs886055522
NM_001136194.1(FASTKD2):c.*3683G>T rs886055523
NM_001136194.1(FASTKD2):c.*3775C>T rs886055524
NM_001136194.1(FASTKD2):c.*3896A>C rs886055525
NM_001136194.1(FASTKD2):c.*3990G>C rs547229926
NM_001136194.1(FASTKD2):c.*4142T>C rs755060762
NM_001136194.1(FASTKD2):c.*4360A>G rs886055526

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