ClinVar Miner

List of variants in gene combination BANF1, EIF1AD, LOC130006089 reported as uncertain significance for Nestor-Guillermo progeria syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001242481.2(EIF1AD):c.-308C>G rs886048512 0.00009
NM_001242481.2(EIF1AD):c.-297T>C rs886048511
NM_001242481.2(EIF1AD):c.-316C>T rs886048513
NM_001242481.2(EIF1AD):c.-322_-321dup rs373907315

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