Get “Gene+c.” results in ClinVar


Have you ever searched for a variant in ClinVar with a gene symbol and a c., and wondered why you got no result? Is the variant not in ClinVar, or was something wrong with your search?

Wonder no more – we’ve improved searching in ClinVar so you get results for a gene symbol and c. more often!

While a gene symbol and c. make an ambiguous query and a full HGVS expression is always the best search term, this new service will help you find the variant when gene symbol and c. are all the information that you have.

We let you know when your variant is not in ClinVar but is in dbSNP. For example, there are no variants in ClinVar that can be described as IRF7 c.1143C>T, but there are two variants in dbSNP:

image2019-9-10_9-37-57

We also tell you when the search term applies to two different variants. For example, there are two variants that can be called TP53 c.619G>A, one of which is in ClinVar and dbSNP; the other is only in dbSNP:

image2019-9-10_9-31-54

Try it out and let us know what you think!

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