ClinVar Miner

Variants studied for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
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 risk factor total
124 13 131 12 4 1 271

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 risk factor total
SLC52A3 32 3 55 6 1 0 88
SLC52A2 19 3 58 5 0 0 83
AR 29 5 12 0 1 0 47
SMN1 29 2 3 0 0 0 32
AR, LOC109504725 5 0 2 1 2 1 11
IGHMBP2 9 0 0 0 0 0 9
ADCK5, BOP1, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28 0 0 1 0 0 0 1
SMN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 38 6 122 10 3 0 179
GeneReviews 47 0 1 0 1 1 50
OMIM 48 0 0 0 0 0 48
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 6 2 2 0 0 0 10
Mendelics 1 0 0 2 0 0 3
Undiagnosed Diseases Network,NIH 0 0 3 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Duke University Health System Sequencing Clinic,Duke University Health System 2 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Counsyl 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 1

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