UNC13D: c.640C>T p.Arg214*
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Interpreting the variant
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|Biological Relevance||Affected functional residues||metal ion-binding site, Interaction with RAB27A, domain C2 2, domain C2 1, Disordered, domain MHD2, domain MHD1|
|Population Allele Frequency||ExAC||8e-06|