ClinVar Miner

List of variants reported as not provided for coenzyme Q10 deficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr) rs140725181 0.00014
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys) rs760710474 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) rs267606751 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) rs751185256 0.00001
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) rs775607037 0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile) rs746489573 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 0.00001
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) rs118203955 0.00001
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) rs374270071 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) rs750710187
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg) rs1057519348
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) rs121918230
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val) rs762616589
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg) rs1057519354
NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs) rs1057519353
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu) rs119463988
NM_016035.5(COQ4):c.155T>C (p.Leu52Ser) rs786204770
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) rs774395996
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del) rs786204771
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) rs397514479
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs) rs1057519352
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) rs189840848
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) rs1057519350

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.