ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117
NM_001136193.2(FASTKD2):c.*1475dup rs111441789
NM_001136193.2(FASTKD2):c.*2069T>A rs2193885
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805
NM_001136193.2(FASTKD2):c.*557A>G rs7559712
NM_001136193.2(FASTKD2):c.*627T>C rs1048783
NM_001136193.2(FASTKD2):c.*672T>A rs61672260
NM_001136193.2(FASTKD2):c.-184C>T rs3762567
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568
NM_001136194.1(FASTKD2):c.*2488T>C rs6435351
NM_001169109.1(SCO2):c.-14+653_-14+656dup rs143413019
NM_001257988.1(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001303.3(COX10):c.-109G>A rs28680987
NM_001303.3(COX10):c.929-9_929-7dupCCC rs144296730
NM_001303.4(COX10):c.*1078C>T rs13183
NM_001303.4(COX10):c.*1101C>T rs75165393
NM_001303.4(COX10):c.*1324C>T rs75636595
NM_001303.4(COX10):c.*1385C>T rs1050223
NM_001303.4(COX10):c.*297G>A rs8076247
NM_001303.4(COX10):c.*438G>C rs75823746
NM_001303.4(COX10):c.*974C>A rs2071245
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.4(COX10):c.928+12G>A rs200573622
NM_001863.5(COX6B1):c.-145G>A rs10420252
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_004376.6(COX15):c.*1476G>A rs1128642
NM_004589.3(SCO1):c.-71G>T rs2520169
NM_004589.4(SCO1):c.*272T>C rs2662956
NM_004589.4(SCO1):c.*310C>T rs2662957
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228
NM_015960.3(CUTC):c.61+237T>G rs2281636
NM_015960.3(CUTC):c.61+75G>A rs2231675
NM_020354.5(ENTPD7):c.*5070A>G rs73345141
NM_020354.5(ENTPD7):c.*5463T>G rs1056844
NM_020354.5(ENTPD7):c.*6487A>G rs10883407
NM_152299.4(NCAPH2):c.*261G>A rs8139305
NM_152299.4(NCAPH2):c.*455G>A rs131811
NM_152299.4(NCAPH2):c.*710G>A rs75485962

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.