ClinVar Miner

Variants studied for Desbuquois dysplasia 1

Included ClinVar conditions (2):
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 total
26 5 274 195 56 553

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
XYLT1 6 0 148 144 30 328
CANT1 15 5 73 12 15 117
LOC102723692, XYLT1 0 0 33 31 9 73
LOC130058566, XYLT1 1 0 14 8 0 23
CANT1, LOC130061867 2 0 3 0 2 7
ABCC1, ABCC6, CEP20, MYH11, NDE1, NOMO3, XYLT1 1 0 1 0 0 2
LOC130058565, XYLT1 0 0 2 0 0 2
LOC102723692, LOC126862302, LOC129390772, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, XYLT1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 0 198 183 39 429
Illumina Laboratory Services, Illumina 0 1 70 12 17 100
OMIM 16 0 0 0 0 16
3billion 2 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Lifecell International Pvt. Ltd 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1

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