ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001143985.1(BANF1):c.-192G>C rs1786171 0.70323
NM_001143985.1(BANF1):c.-221T>G rs14157 0.38941
NM_001143985.1(BANF1):c.-254G>T rs78790365 0.02064
NM_003860.4(BANF1):c.*177G>A rs148797275 0.01543
NM_003860.4(BANF1):c.*128C>A rs144367403 0.00924
NM_003860.4(BANF1):c.204C>T (p.Gly68=) rs140057395 0.00435
NM_003860.4(BANF1):c.*100C>T rs145574018 0.00424
NM_003860.4(BANF1):c.-70T>G rs35208625 0.00339
NM_001143985.1(BANF1):c.-297G>A rs141605220 0.00271
NM_001143985.1(BANF1):c.-230C>T rs781260209 0.00041
NM_003860.4(BANF1):c.9C>T (p.Thr3=) rs150372514 0.00038
NM_003860.4(BANF1):c.*273C>G rs142270527 0.00037
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_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.34G>A (p.Ala12Thr) rs387906871

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.