ACMG Gene List variations
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5.0 years ago
win ▴ 890

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 • 998 views
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Entering edit mode
5.0 years ago
GenoMax 99k

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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Entering edit mode
5.0 years ago

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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