ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_000935.2(PLOD2):c.-212C>T rs564744346
NM_000935.2(PLOD2):c.-286G>T
NM_000935.2(PLOD2):c.-322G>T rs550383313
NM_000935.2(PLOD2):c.-412C>T rs79723478
NM_000935.2(PLOD2):c.-417A>G
NM_000935.2(PLOD2):c.-455C>T rs886058066
NM_000935.2(PLOD2):c.-478G>C rs886058067
NM_182943.3(PLOD2):c.*1034A>C
NM_182943.3(PLOD2):c.*1049G>T
NM_182943.3(PLOD2):c.*1157T>C rs569145930
NM_182943.3(PLOD2):c.*1169T>C
NM_182943.3(PLOD2):c.*1211C>T rs886058061
NM_182943.3(PLOD2):c.*148T>C rs886058064
NM_182943.3(PLOD2):c.*171T>G rs13079521
NM_182943.3(PLOD2):c.*25A>C
NM_182943.3(PLOD2):c.*292C>T rs886058063
NM_182943.3(PLOD2):c.*32T>C
NM_182943.3(PLOD2):c.*37A>G rs6710
NM_182943.3(PLOD2):c.*418A>T
NM_182943.3(PLOD2):c.*501C>T
NM_182943.3(PLOD2):c.*587G>A rs886058062
NM_182943.3(PLOD2):c.*63T>G
NM_182943.3(PLOD2):c.*673A>T
NM_182943.3(PLOD2):c.*683C>T rs566705549
NM_182943.3(PLOD2):c.*742A>G
NM_182943.3(PLOD2):c.*759T>C
NM_182943.3(PLOD2):c.*764A>G rs141834169
NM_182943.3(PLOD2):c.*809T>C rs540984133
NM_182943.3(PLOD2):c.*847C>T rs3792347
NM_182943.3(PLOD2):c.*848G>A
NM_182943.3(PLOD2):c.*930A>C
NM_182943.3(PLOD2):c.-104G>T
NM_182943.3(PLOD2):c.-170C>G rs527384365
NM_182943.3(PLOD2):c.-188C>G
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.103C>T (p.Pro35Ser)
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser) rs116803293
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193
NM_182943.3(PLOD2):c.121G>A (p.Val41Ile)
NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val)
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) rs750664256
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) rs142909885
NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg) rs760876151
NM_182943.3(PLOD2):c.1500+12A>G rs73010484
NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala)
NM_182943.3(PLOD2):c.1626C>T (p.Tyr542=)
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775
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.1744-11A>G
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)
NM_182943.3(PLOD2):c.1995G>A (p.Lys665=)
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)
NM_182943.3(PLOD2):c.2121+14T>C rs376009508
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu) rs764056697
NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly)
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.532C>T (p.Arg178Cys)
NM_182943.3(PLOD2):c.533G>A (p.Arg178His) rs143513488
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile) rs148118826
NM_182943.3(PLOD2):c.616-13T>A rs149019740
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692
NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr)

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