Entering edit mode
20 months ago
Manuel
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40
Is it provided by clinvar or an easy way to get the number of unique SNPs and indels in Clinvar?
I have found the unique variation record in here. But this also included structural variation such as CNVs.
ClinVar submissions This page summarizes submissions and properties of submissions (assertion criteria, genes, unique variation records), represented in ClinVar.
Follow this link to review all submitters and the summary of their contributions. We acknowledge their support.
Submission overview
Category of analysis Current total (Aug 16, 2022)
Records submitted 2408102
Records with assertion criteria 1349072
Records with an interpretation 2383223
Total genes represented 37547
Unique variation records 1551626
Unique variation records with interpretations 1540897
Unique variation records with assertion criteria 875803
Unique variation records with practice guidelines (4 stars) 663
Unique variation records from expert panels (3 stars) 13554
Unique variation records with assertion criteria, multiple submitters, and no conflicts (2 stars) 138252
Unique variation records with assertion criteria (1 star) 682916
Unique variation records with assertion criteria and a conflict (1 star) 40418
Unique variation records with conflicting interpretations 44029
Genes with variants specific to one gene 11635
Genes with variants specific to one protein-coding gene 11522
Genes included in a variant spanning more than one gene 37838
Variants affecting overlapping genes 32013
Total submitters 2284