ClinVar Miner

List of variants studied for progeria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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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_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
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_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
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_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_001143985.1(BANF1):c.-297G>A rs141605220 0.00271
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
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_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_001143985.1(BANF1):c.-429G>C rs886048512 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_001143985.1(BANF1):c.-105G>A rs1338388711 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_001143985.1(BANF1):c.-35A>T rs886048515 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 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
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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