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should we ignore interesting variants with no MAF in gnomAD or ExAC by annovar?

Hi all

I have a group of variants that seem interesting to our phenotypes. But they have MAF is set to dot "." in annovar annotations but everything else seem okay, should we consider them or not for further study?

Thanks

variants annovar
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updated by WouterDeCoster WouterDeCoster • written by Tania Tania

1 answer

AFAIK this means they are very rare: not known in databases. Whether these are then a) more interesting or b) not interesting at all obviously depends on your biological question.

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written by WouterDeCoster WouterDeCoster

Thank you. so they are even more rare than those with zero MAF in gnomAD or ExAC?

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written by Tania Tania

Probably, if annovar includes those databases. To confirm, just search a couple of them in the gnomAD browser.

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written by WouterDeCoster WouterDeCoster

Ok, thanks. When I manually search them in gnomAD or ExAC, they are not found.

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written by Tania Tania

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