ClinVar Miner

List of variants in gene combination C10orf55, PLAU reported as uncertain significance for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
NM_001145031.2(PLAU):c.*935A>G rs886047214
NM_002658.5(PLAU):c.*176G>T rs886047209
NM_002658.5(PLAU):c.*3G>A rs886047208
NM_002658.5(PLAU):c.*631C>T rs886047210
NM_002658.5(PLAU):c.*688C>T rs886047211
NM_002658.5(PLAU):c.*753C>T rs545559536
NM_002658.5(PLAU):c.*880T>A rs886047212
NM_002658.5(PLAU):c.*900A>G rs886047213
NM_002658.5(PLAU):c.-32+9C>G rs538342269
NM_002658.5(PLAU):c.-32G>A rs886047205
NM_002658.5(PLAU):c.-41G>A rs886047204
NM_002658.5(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.5(PLAU):c.368+6G>C rs186447765
NM_002658.5(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.5(PLAU):c.750G>C (p.Gly250=) rs886047207
NM_002658.6(PLAU):c.1229C>T (p.Thr410Met)
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)
NM_002658.6(PLAU):c.845G>A (p.Arg282His)

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.