How does OMIM select the clinically associated variants (SNPs)?

Question

[nkav2]

Hi all,

I know that OMIM shows some, and not all, of the clinical variants of an SNP for a gene. Does anybody know how I can access all of the variants on OMIM and not just the selected ones?

For example in here, http://www.omim.org/entry/610966, apparently based on what somebody said, there are 10 variants in total but OMIM is showing 3 of all of those. How can I know what are the other seven? and access them?

Thank you!

[Devon Ryan]

You'll likely have to look through pubmed to find the additional ones.

Answer 1

[Benn]

My experience with deposition of variants in OMIM is that they select the variants based on literature, manually.

[Max Ivon]

Yes, OMIM is manually curated (http://www.omim.org/help/faq). Another sources of pathogenic mutations are CLINVAR and HGMD, which are basically also manually curated, but generally contain more mutations (and more false positive ones, keep this in mind). So OMIM does not hide any variants and show everything it contains, it is just very strict for mutation inclusion.