ClinVar Miner

List of variants studied for Nestor-Guillermo progeria syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 27
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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.-408C>T rs117774800 0.00044
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.-429G>C 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.-415_-414dup rs373907315
NM_001143985.1(BANF1):c.-421G>A rs886048513
NM_001143985.1(BANF1):c.-440A>G rs886048511
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.-60C>T rs554069413
NM_003860.4(BANF1):c.-62A>G rs886048516

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