ClinVar Miner

List of variants studied for Bruck syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000935.2(PLOD2):c.*148T>C rs886058064
NM_000935.2(PLOD2):c.*292C>T rs886058063
NM_000935.2(PLOD2):c.*587G>A rs886058062
NM_000935.2(PLOD2):c.*809T>C rs540984133
NM_000935.2(PLOD2):c.-212C>T rs564744346
NM_000935.2(PLOD2):c.-322G>T rs550383313
NM_000935.2(PLOD2):c.-412C>T rs79723478
NM_000935.2(PLOD2):c.-455C>T rs886058066
NM_000935.2(PLOD2):c.-478G>C rs886058067
NM_000935.2(PLOD2):c.1457A>G (p.Lys486Arg) rs760876151
NM_000935.2(PLOD2):c.2058+14T>C rs376009508
NM_000935.2(PLOD2):c.306T>A (p.Asp102Glu) rs764056697
NM_000935.2(PLOD2):c.616-13T>A rs149019740
NM_182943.3(PLOD2):c.*1157T>C rs569145930
NM_182943.3(PLOD2):c.*1211C>T rs886058061
NM_182943.3(PLOD2):c.*171T>G rs13079521
NM_182943.3(PLOD2):c.*37A>G rs6710
NM_182943.3(PLOD2):c.*683C>T rs566705549
NM_182943.3(PLOD2):c.*764A>G rs141834169
NM_182943.3(PLOD2):c.*847C>T rs3792347
NM_182943.3(PLOD2):c.-170C>G rs527384365
NM_182943.3(PLOD2):c.-73C>T rs148948195
NM_182943.3(PLOD2):c.-81C>T rs886058065
NM_182943.3(PLOD2):c.-95G>A rs368041250
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) rs750664256
NM_182943.3(PLOD2):c.1500+12A>G rs73010484
NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg) rs148051196
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val) rs558336915
NM_182943.3(PLOD2):c.338+4G>A rs4681297
NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu) rs200569129
NM_182943.3(PLOD2):c.471G>A (p.Val157=) rs761346369
NM_182943.3(PLOD2):c.533G>A (p.Arg178His) rs143513488

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.