ClinVar Miner

Variants in gene XDH

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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 4 187 67 42 276

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary xanthinuria type 1 5 2 131 26 20 183
Xanthinuria type II 7 3 64 25 23 122
not provided 0 0 2 17 1 20
not specified 0 0 0 1 6 6
Xanthinuria 0 0 4 1 0 5
Protein-losing enteropathy (disease); Short stature; Hydronephrosis; Cataract (disease); Eczema; Immunodeficiency; Intrauterine growth retardation; Neutropenia; Urachal cyst (disease); Thrombocytopenia 0 0 2 0 0 2
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 134 27 20 181
Invitae 7 3 64 40 22 136
PreventionGenetics, PreventionGenetics 0 0 0 0 6 6
OMIM 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Mendelics 0 0 0 0 2 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
GeneDx 0 0 0 1 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1

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