ClinVar Miner

Variants studied for Duane retraction syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
20 6 95 6 4 1 131

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHN1 10 1 40 3 4 1 58
MAFB 5 0 27 3 0 0 35
COL25A1 4 5 4 0 0 0 13
CHN1, LOC126806410 0 0 5 0 0 0 5
GNAS 0 0 4 0 0 0 4
CUX1 0 0 3 0 0 0 3
ACTR1B 0 0 2 0 0 0 2
FER 0 0 2 0 0 0 2
KIF5C 0 0 2 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ADAM12, ADAM8, ADGRA1, AS-PTPRE, BNIP3, C10orf143, C10orf90, CALY, CFAP46, CLRN3, DOCK1, DPYSL4, EBF3, ECHS1, FANK1, FOXI2, FUOM, GLRX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LINC00601, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC02667, LINC02870, LINC03068, LOC102724883, LOC107984281, LOC107984282, LOC110120846, LOC110120892, LOC110120916, LOC110120924, LOC110120928, LOC110121444, LOC110599579, LOC111875835, LOC111946221, LOC121366093, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC126861106, LOC129390239, LOC129390240, LOC129390241, LOC130004945, LOC130004946, LOC130004947, LOC130004948, LOC130004949, LOC130004950, LOC130004951, LOC130004952, LOC130004953, LOC130004954, LOC130004955, LOC130004956, LOC130004957, LOC130004958, LOC130004959, LOC130004960, LOC130004961, LOC130004962, LOC130004963, LOC130004964, LOC130004965, LOC130004966, LOC130004967, LOC130004968, LOC130004969, LOC130004970, LOC130004971, LOC130004972, LOC130004973, LOC130004974, LOC130004975, LOC130004976, LOC130004977, LOC130004978, LOC130004979, LOC130004980, LOC130004981, LOC130004982, LOC130004983, LOC130004984, LOC130004985, LOC130004986, LOC130004987, LOC130004988, LOC130004989, LOC130004990, LOC130004991, LOC130004992, LOC130004993, LOC130004994, LOC130004995, LOC130004996, LOC130004997, LOC130004998, LOC130004999, LOC130005000, LOC130005001, LOC130005002, LOC130005003, LOC130005004, LOC130005005, LOC130005006, LOC130005007, LOC130005008, LOC130005009, LOC130005010, LOC130005011, LOC130005012, LOC130005013, LOC130005014, LOC130005015, LOC130005016, LOC130005017, LOC130005018, LOC130005019, LOC130005020, LOC130005021, LOC130005022, LOC130005023, LOC130005024, LOC130005025, LOC130005026, LOC130005027, LOC130005028, LOC130005029, LOC130005030, LOC130005031, LOC132089757, LOC132089758, LOC132089759, LOC132089760, LOC132089761, LOC132090830, LOC728158, LRRC27, MGMT, MIR202, MIR202HG, MIR378C, MIR3944, MIR4297, MKI67, MTG1, NKX6-2, NPS, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, TCERG1L, TUBGCP2, UTF1, VENTX, ZNF511, ZNF511-PRAP1 1 0 0 0 0 0 1
CHN1, LOC129935151 0 0 1 0 0 0 1
COL7A1 0 0 1 0 0 0 1
FOXL2 0 0 1 0 0 0 1
PTPN11 0 0 1 0 0 0 1
TUBA8 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 39 3 4 0 46
Fulgent Genetics, Fulgent Genetics 1 0 27 3 0 0 31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 20 0 0 0 21
OMIM 16 0 0 0 0 0 16
Engle Laboratory, Boston Children's Hospital 4 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
3billion 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1

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