ClinVar Miner

List of variants reported as uncertain significance for Quebec platelet disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002658.6(PLAU):c.*900A>G rs886047213 0.00016
NM_002658.6(PLAU):c.*753C>T rs545559536 0.00010
NM_002658.6(PLAU):c.-32+9C>G rs538342269 0.00010
NM_002658.6(PLAU):c.*921T>C rs868098697 0.00007
NM_002658.6(PLAU):c.*917G>A rs879420957 0.00005
NM_002658.6(PLAU):c.*631C>T rs886047210 0.00004
NM_002658.6(PLAU):c.845G>A (p.Arg282His) rs34930250 0.00004
NM_002658.6(PLAU):c.368+6G>C rs186447765 0.00003
NM_002658.4(PLAU):c.*935A>G rs886047214 0.00001
NM_002658.6(PLAU):c.*309T>C rs1026194457 0.00001
NM_002658.6(PLAU):c.*474G>A rs184153523 0.00001
NM_002658.6(PLAU):c.*880T>A rs886047212 0.00001
NM_002658.6(PLAU):c.-32G>A rs886047205 0.00001
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn) rs764051398 0.00001
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly) rs183208966 0.00001
NM_002658.6(PLAU):c.*176G>T rs886047209
NM_002658.6(PLAU):c.*3G>A rs886047208
NM_002658.6(PLAU):c.*538G>A rs185856064
NM_002658.6(PLAU):c.*688C>T rs886047211
NM_002658.6(PLAU):c.-41G>A rs886047204
NM_002658.6(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.6(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys) rs1249124159
NM_002658.6(PLAU):c.750G>C (p.Gly250=) rs886047207

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.