ClinVar Miner

Variants studied for coenzyme Q10 deficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
104 66 320 160 67 50 689

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COQ4 27 11 88 100 8 5 224
COQ8A 30 28 78 11 25 19 166
PDSS1 7 1 38 10 10 3 65
COQ9 4 3 23 9 7 1 44
COQ2 5 4 20 9 2 8 41
COQ6, ENTPD5 11 4 14 2 4 8 35
PDSS2 2 2 16 10 1 2 30
COQ2, LOC112997540 0 7 20 1 2 1 27
COQ7 9 2 5 0 2 1 14
COQ4, LOC130002704 3 0 4 4 2 1 13
COQ9, LOC112469007 1 0 7 0 0 0 8
COQ6 1 1 1 2 1 0 5
ABI1, PDSS1 0 0 2 2 1 0 4
COQ7, COQ7-DT, LOC130058587 1 2 1 0 0 1 4
COQ5 1 1 0 0 0 0 2
ABCA2, ABL1, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AIF1L, AJM1, AK8, ANAPC2, ARRDC1, ASB6, ASS1, BARHL1, BRD3, C8G, C9orf163, C9orf50, C9orf78, CACFD1, CACNA1B, CAMSAP1, CARD9, CCDC183, CEL, CERCAM, CFAP77, CIMIP2A, CLIC3, COL5A1, COQ4, CRAT, CYSRT1, DBH, DDX31, DIPK1B, DNLZ, DOLK, DOLPP1, DPH7, DPP7, DYNC2I2, EDF1, EGFL7, EHMT1, ENDOG, ENTPD2, ENTPD8, ENTR1, EXD3, EXOSC2, FAM163B, FAM78A, FBXW5, FCN1, FCN2, FIBCD1, FNBP1, FUBP3, FUT7, GBGT1, GFI1B, GLE1, GLT6D1, GPR107, GPSM1, GRIN1, GTF3C4, GTF3C5, HMCN2, IER5L, INPP5E, KCNT1, KYAT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, LINC02913, LOC651337, LRRC26, LRRC8A, MAMDC4, MAN1B1, MED22, MED27, MIGA2, MIR126, MRPL41, MRPS2, MYMK, NACC2, NCS1, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, NTMT1, NTNG2, NUP188, NUP214, OBP2A, OBP2B, ODF2, OLFM1, PAEP, PAXX, PHPT1, PHYHD1, PIERCE1, PKN3, PLPP7, PMPCA, PNPLA7, POMT1, PPP1R26, PRDM12, PRRC2B, PRRX2, PTGDS, PTGES, PTPA, QRFP, QSOX2, RABL6, RALGDS, RAPGEF1, REXO4, RNF208, RNF224, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SET, SETX, SH3GLB2, SLC27A4, SLC2A6, SLC34A3, SNAPC4, SNHG7, SOHLH1, SPACA9, SPOUT1, SPTAN1, SSNA1, STKLD1, STPG3, SURF1, SURF2, SURF4, SURF6, TBC1D13, TMEM141, TMEM203, TMEM210, TMEM250, TOR1A, TOR1B, TOR4A, TPRN, TRAF2, TSC1, TTF1, TUBB4B, UAP1L1, UBAC1, UCK1, URM1, USP20, VAV2, WDR5, ZDHHC12, ZER1, ZMYND19 0 0 1 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860771, LOC129390114, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 0 0 1
APTX 0 0 1 0 0 0 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 1
COQ7, LOC130058587 0 0 0 0 1 0 1
COQ8A, LOC129932681 0 0 1 0 0 0 1
COQ8A, LOC129932682 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 5 85 103 10 0 219
Illumina Laboratory Services, Illumina 0 2 122 17 29 0 170
Fulgent Genetics, Fulgent Genetics 3 6 57 38 4 0 108
OMIM 54 0 0 0 0 0 54
GeneReviews 2 0 0 0 0 46 48
Baylor Genetics 4 3 23 0 0 0 30
Revvity Omics, Revvity 3 13 14 0 0 0 30
Genome-Nilou Lab 0 0 0 0 28 0 28
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 9 6 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 5 5 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 8 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 5 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 6 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 5 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 3 0 0 0 0 7
Mendelics 7 0 0 0 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 0 2 5 0 0 0 7
3billion 1 4 1 0 0 0 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 4 1 0 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 3 0 0 0 5
Centogene AG - the Rare Disease Company 2 0 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 2 0 0 0 4
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 2 1 1 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 1 1 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
New York Genome Center 0 2 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 0 0 0 2
Computational Genomics, IRCCS Azienda Ospedaliero-universitaria Di Bologna 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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