Variant search

You can search for variants in the Variant search box by:

Single phenotype

"phenotype1" (e.g., "Mandibular prognathia")

Disease

"disease1" (e.g., Kabuki syndrome 1)

Disease inheritance mode

"inheritance mode1" (e.g., Autosomal dominant);

Genomic position

"coordinate1" (e.g., chr11:2686616)

Specific SNV/indel variant (32.0+)

"variant" (e.g., chr1:27089776G>T)

Genomic range

"range1" (e.g., chr11:2686616-2886620)

CNV length

"cnv_size:size1" (e.g., cnv_size:100000-10000000)

Gene symbol

"gene1" (e.g., BRCA1)

Multiple gene symbols added in batch

"gene1, gene2, gene3" (e.g., BRCA1, BRCA2, UBE3A)

Most of the above-listed options may be combined.