get rsID or positions from variant name/gene info
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10 months ago
Floydian_slip ▴ 150

Hi, I have a list of variant and gene info as follows:

MCOLN1  c.406-2A>G
G6PC    c.247C>T
PCDH15  c.733C>T
CLRN1   c.144T>G
NEB     c.7431+1917_7536+372del

I would like to either get rsIDs or preferably their coordinates in hg19/GRCh37. Is there a straight forward way of doing this? I have 100s of such entries hence manually not possible. Thanks so much in advance.

clinvar dbSNP rsID variants • 368 views
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Thanks, genomax! This is helpful. However, I was wondering if there is any tool which will not need the transcript info? Both these tools do. I know it sounds weird to list the coordinates of these variants without the transcript info but unfortunately that's all I have from a collaborator.

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