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Old 09-25-2012, 07:58 AM   #1
Rocketknight
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Default Determining clinical significance of variants

Hi, I'm working with human exome samples. I'm hoping to pick out any mutations that have been previously reported as clinically significant, but I'm not sure which online databases or annotation tracks are the best to use for this. OMIM was my first guess, but their FAQ states that they don't list all known function-altering allelic variants. Any suggestions? (Sorry if this is a newbie question)
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Old 09-28-2012, 08:40 AM   #2
Joann
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Another starting point is GeneTests
http://www.ncbi.nlm.nih.gov/sites/GeneTests/
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Old 09-28-2012, 08:54 AM   #3
aggp11
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You could try looking at the NHLBI Exome Variant Server and also look for SNPs from PharmGKB as a starting point.
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