Hi I'm working on a project where we need to check patients DNA sequences (for a single gene), and find all differences to ref seq for that and then check the effects. first I'll compare the sequence to it's ref seq and find differences. then i need to check if this variations were reported before.
i know that some variants witch have more than 1% frequency were reported and i can use dbSNP for this purpose, but i need more. i want to check if the single nucleotide variation between the reference and my patient sequence is a rare variant reported before or not? and if reported, is there any information on effects?
i heard about gene-specific databases some, is there any other valuable database? better to be available for programming. (e.g in R)
my sequences comes from sanger sequencing and .ab1 files are available