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.