ClinVar Miner

List of variants reported as benign for Mitochondrial complex IV deficiency, nuclear type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354 0.55696
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_001136193.2(FASTKD2):c.*627T>C rs1048783 0.30015
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117 0.18633
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805 0.13062
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991 0.13052
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.-184C>T rs3762567 0.12134
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_001136193.2(FASTKD2):c.*672T>A rs61672260 0.05029
NM_001303.4(COX10):c.928+12G>A rs200573622 0.04100
NM_001136193.2(FASTKD2):c.*557A>G rs7559712 0.03356
NM_001136193.2(FASTKD2):c.*9T>C rs10194665 0.01553
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) rs35252424 0.01444
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_001136193.2(FASTKD2):c.*2488T>C rs6435351
NM_001136193.2(FASTKD2):c.991-13G>A rs13421046
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*831CT[1] rs397763766
NM_004589.4(SCO1):c.*320= rs2040570
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_078470.6(COX15):c.*3485dup rs11405417

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.