STXBP2: c.326-30_326-23del Unknown


Bibliography:

Biallelic:

Yes

Monoallelic:

-

Described >1 patient:

-

Functional Studies:

-

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Interpreting the variant


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Clinical Evidence ClinVar -
UniProt -
Biological Relevance Functional residue -
Variant Information dbSNP rs765482362
Ensembl variant
Population Allele Frequency ExAC -
gnomAD -

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