ClinVar Miner

List of variants reported as uncertain significance for Nestor-Guillermo progeria syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003860.4(BANF1):c.-70T>G rs35208625 0.00339
NM_001143985.1(BANF1):c.-230C>T rs781260209 0.00041
NM_003860.4(BANF1):c.9C>T (p.Thr3=) rs150372514 0.00038
NM_001242481.2(EIF1AD):c.-308C>G rs886048512 0.00009
NM_001143985.1(BANF1):c.-105G>A rs1338388711 0.00002
NM_001143985.1(BANF1):c.-35A>T rs886048515 0.00001
NM_001143985.1(BANF1):c.-86G>A rs886048514
NM_001242481.2(EIF1AD):c.-297T>C rs886048511
NM_001242481.2(EIF1AD):c.-316C>T rs886048513
NM_001242481.2(EIF1AD):c.-322_-321dup rs373907315
NM_003860.4(BANF1):c.*120T>A rs886048518
NM_003860.4(BANF1):c.*143T>A rs1478691828
NM_003860.4(BANF1):c.*182T>C rs1856076940
NM_003860.4(BANF1):c.*209T>G rs886048519
NM_003860.4(BANF1):c.*64T>A rs886048517
NM_003860.4(BANF1):c.-60C>T rs554069413
NM_003860.4(BANF1):c.-62A>G rs886048516

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