ClinVar Miner

Variants studied for clubfoot

Included ClinVar conditions (19):
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
11 12 14 0 2 39

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PITX1 2 3 6 2 13
BLTP1 0 3 0 0 3
​intergenic 1 0 1 0 2
ATP2B1 0 2 0 0 2
CC2D2A 2 0 0 0 2
DARS2 2 0 0 0 2
PKD1 0 0 2 0 2
PLOD2 0 2 0 0 2
AARS1 0 0 1 0 1
COL5A1 0 1 0 0 1
INPP5E 1 0 0 0 1
KAT6B 0 1 0 0 1
NSD2 1 0 0 0 1
RYR1 1 0 0 0 1
TNFRSF13B 0 0 1 0 1
TRPV4 1 0 0 0 1
UNC13C 0 0 1 0 1
VANGL1 0 0 1 0 1
WAPL 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance benign total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 4 4 0 14
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 2 0 3
OMIM 2 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Genome-Nilou Lab 0 0 0 1 1
Pars Genome Lab 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 1

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