ClinVar Miner

List of variants in gene BANF1, EIF1AD, LOC130006089 studied for Nestor-Guillermo progeria syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001143985.1(BANF1):c.-408C>T rs117774800 0.00057
NM_001143985.1(BANF1):c.-429G>C rs886048512 0.00008
NM_001143985.1(BANF1):c.-415_-414dup rs373907315
NM_001143985.1(BANF1):c.-421G>A rs886048513
NM_001143985.1(BANF1):c.-440A>G rs886048511

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