ClinVar Miner

List of variants in gene USB1 studied for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024598.4(USB1):c.99-36G>A rs3743560 0.60216
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) rs146685901 0.00223
NM_024598.4(USB1):c.784A>G (p.Met262Val) rs143382202 0.00027
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) rs149725439 0.00017
NM_024598.4(USB1):c.387G>C (p.Leu129=) rs542658449 0.00010
NM_024598.4(USB1):c.111C>T (p.Pro37=) rs767672950 0.00002
NM_024598.4(USB1):c.253G>A (p.Val85Ile) rs764580227 0.00002
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) rs137853973 0.00001
NM_024598.4(USB1):c.673C>T (p.Gln225Ter) rs1459714680 0.00001
NM_024598.3:c.334dup
NM_024598.4(USB1):c.176_177del (p.Gly59fs) rs759761915
NM_024598.4(USB1):c.179del (p.Pro60fs) rs786205051
NM_024598.4(USB1):c.209G>A (p.Arg70Gln) rs767016894
NM_024598.4(USB1):c.232C>T (p.Arg78Ter) rs374559185
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter) rs199820065
NM_024598.4(USB1):c.265+2T>G rs1555497680
NM_024598.4(USB1):c.266-1G>A rs1555498092
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) rs771096742
NM_024598.4(USB1):c.334dup (p.Arg112fs) rs1555498117
NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer) rs1555498120
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
NM_024598.4(USB1):c.415C>T (p.Gln139Ter) rs1555498129
NM_024598.4(USB1):c.450-2A>G rs1555498396
NM_024598.4(USB1):c.489_492del (p.Asn163fs) rs777667891
NM_024598.4(USB1):c.499del (p.Thr167fs) rs1555498399
NM_024598.4(USB1):c.502A>G (p.Arg168Gly) rs137853971
NM_024598.4(USB1):c.504-2A>C rs137853970
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) rs1555498563
NM_024598.4(USB1):c.531del (p.His179fs) rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter) rs1555498573
NM_024598.4(USB1):c.609+1G>A rs1555498581
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_024598.4(USB1):c.683_693+1del rs137853972
NM_024598.4(USB1):c.693+1G>T rs1292827495
NM_024598.4(USB1):c.796T>G (p.Ter266Gly) rs1963706554

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.