ClinVar Miner

Variants in gene TXNRD2

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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
1 1 80 84 62 213

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary dilated cardiomyopathy 0 0 51 22 16 88
not specified 0 0 3 56 23 82
not provided 0 0 12 12 29 53
Cardiovascular phenotype 0 0 19 19 13 51
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 5
Cardiomyopathy 0 0 1 0 0 1
Ependymoma 0 0 1 0 0 1
GLUCOCORTICOID DEFICIENCY 5 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 14 68 52 134
Invitae 0 0 48 22 16 86
Ambry Genetics 0 0 19 19 13 51
Blueprint Genetics, 0 0 9 0 0 9
OMIM 1 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

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