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ACMG Gene List variations

Hi all, The ACMG gene list

https://ccrod.cancer.gov/confluence/download/attachments/110629940/2.%20ACMG%20Gene%20List.pdf?version=1&modificationDate=1424975206797&api=v2

I wanted to know the best way to generate a list of variations(dbSNP & CNVs) for each of the gene listed in there?

Any resource created?

Thanks in advance.

ngs
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updated by Ibrahim Tanyalcin Ibrahim Tanyalcin • written by win win

2 answers

Direct from ClinVar.
dbSNP or BioMart from Ensembl (Variations db) or Table Browser (group variations) from UCSC as other options. You will have to move the genelist out of the PDF.

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written by GenoMax GenoMax

Dear,

I happened to have BRCA1 and BRCA2, however these are 6-8 months old:

http://i-pv.org/BRCA1.html

http://i-pv.org/BRCA2.html

Regards,

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written by Ibrahim Tanyalcin Ibrahim Tanyalcin

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