ClinVar Miner

Variants from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2839 373 0 191 58 0 122 342

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 114 36 1 1
likely pathogenic 41 0 30 0 0
uncertain significance 29 40 0 27 9
likely benign 0 0 13 0 12
benign 1 0 11 24 0

Submitter to submitter summary #

Total submitters: 45
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Invitae 0 391 0 64 45 0 78 187
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 36 0 62 6 0 14 82
Baylor Genetics 0 104 0 46 2 0 28 76
Counsyl 0 16 0 33 7 0 8 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 55 0 7 6 0 12 25
Mendelics 0 29 0 13 1 0 3 17
Revvity Omics, Revvity 0 31 0 8 1 0 7 16
Natera, Inc. 0 72 0 7 4 0 5 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 25 0 8 0 0 5 13
OMIM 0 25 0 10 0 0 2 12
Myriad Genetics, Inc. 0 5 0 2 1 0 7 10
Illumina Laboratory Services, Illumina 0 24 0 2 3 0 3 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 5 0 1 0 0 4 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 4 0 3 0 0 1 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 2 0 0 2 4
Genetics and Molecular Pathology, SA Pathology 0 1 0 3 0 0 1 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 0 0 1 3
Fulgent Genetics, Fulgent Genetics 0 23 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 2 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 1 2 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 2 0 0 0 2
3billion 0 6 0 1 0 0 1 2
Pediatric Department, Xiangya Hospital, Central South University 0 3 0 1 0 0 1 2
Genomics England Pilot Project, Genomics England 0 3 0 1 0 0 1 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 6 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 1 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 7 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 5 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 1 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 0 1 0 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 0 0 0 0 0 1 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 0 0 1 0 0 1
Genome-Nilou Lab 0 14 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 342
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_000018.4(ACADVL):c.63-35G>A rs774905326 0.00053
NM_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000018.4(ACADVL):c.622+12C>A rs374633807 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_000018.4(ACADVL):c.1077+16G>A rs780420241 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.139-20C>T rs374535729 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.477+8C>T rs1437698813 0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1713-4G>A rs201857960 0.00002
NM_002693.3(POLG):c.3273+8G>A rs776468044 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr) rs1567565733 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) rs1175359422 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.138+1G>A rs747351687 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.1827+10G>A rs766755156 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp) rs1458941582 0.00001
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.62+20G>A rs369163211 0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg) rs748329498 0.00001
NM_000018.4(ACADVL):c.63-2A>C rs1555527513 0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318 0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.879-16C>A rs780626099 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met) rs771247610 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00001
NM_002693.3(POLG):c.1251G>A (p.Arg417=) rs1567191509 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) rs771254207 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.3273+6T>A rs886051522 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile) rs1278715599 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611 0.00001
NC_000006.11:g.5610223_5726369del
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CYB):m.12258C>T rs118203888
NC_012920.1(MT-CYB):m.12264C>T rs1603223642
NC_012920.1(MT-CYB):m.1659T>C rs1603218609
NC_012920.1(MT-ND1):m.1624C>T rs199476144
NC_012920.1(MT-ND1):m.1630A>G rs1603218588
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1:m.13051G>A rs1131692063
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) rs2071296591
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs) rs1402646371
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr) rs2071345821
NM_000018.4(ACADVL):c.1316del (p.Gly439fs) rs748077880
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg) rs771117714
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del) rs762619071
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs) rs2071371983
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter) rs2071146837
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000018.4(ACADVL):c.1605+2T>A rs1597537351
NM_000018.4(ACADVL):c.1605+2T>C rs1597537351
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs) rs2071393587
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs) rs2071395312
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs) rs2071412513
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser) rs2071416769
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.278-1G>A rs1298004609
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs) rs2071168842
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter) rs370146676
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.477+17G>A rs375076326
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly) rs2071225938
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys) rs1597525536
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val) rs2071252145
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter) rs2071253904
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.753-2A>G rs398123092
NM_000018.4(ACADVL):c.753-9C>T rs1262931604
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs) rs2071266269
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs) rs2071119862
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.879-8T>A rs2071286355
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs) rs2071289046
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
m.3242G>A rs193303018
m.3635G>A rs397515507
m.4171C>A rs28616230
m.5521G>A rs199474673
m.5814T>C rs200077222

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