ClinVar Miner

List of variants reported as uncertain significance 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: 25
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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.-322G>T rs550383313
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.*683C>T rs566705549
NM_182943.3(PLOD2):c.*764A>G rs141834169
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.1658A>G (p.Gln553Arg) rs148051196
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val) rs558336915
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

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