ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_182943.3(PLOD2):c.338+4G>A rs4681297 0.77857
NM_182943.3(PLOD2):c.*37A>G rs6710 0.51778
NM_182943.3(PLOD2):c.1500+12A>G rs73010484 0.23989
NM_182943.3(PLOD2):c.*847C>T rs3792347 0.09680
NM_182943.3(PLOD2):c.*171T>G rs13079521 0.02719
NM_000935.2(PLOD2):c.-412C>T rs79723478 0.02050
NM_000935.2(PLOD2):c.-212C>T rs564744346 0.01058
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser) rs116803293 0.00701
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193 0.00532
NM_182943.3(PLOD2):c.*32T>C rs148862685 0.00531
NM_182943.3(PLOD2):c.-104G>T rs573663835 0.00486
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445 0.00458
NM_182943.3(PLOD2):c.*764A>G rs141834169 0.00429
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775 0.00428
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412 0.00288
NM_182943.3(PLOD2):c.-73C>T rs148948195 0.00171
NM_182943.3(PLOD2):c.-81C>T rs886058065 0.00142
NM_182943.3(PLOD2):c.-170C>G rs527384365 0.00129
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile) rs148118826 0.00096
NM_182943.3(PLOD2):c.*1157T>C rs569145930 0.00074
NM_182943.3(PLOD2):c.*848G>A rs183566908 0.00068
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692 0.00061
NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu) rs200569129 0.00056
NM_182943.3(PLOD2):c.*501C>T rs904592942 0.00047
NM_182943.3(PLOD2):c.*683C>T rs566705549 0.00038
NM_182943.3(PLOD2):c.533G>A (p.Arg178His) rs143513488 0.00036
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_182943.3(PLOD2):c.*809T>C rs540984133 0.00030
NM_182943.3(PLOD2):c.1744-11A>G rs376704588 0.00030
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) rs142909885 0.00028
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys) rs140079753 0.00025
NM_182943.3(PLOD2):c.-95G>A rs368041250 0.00017
NM_182943.3(PLOD2):c.*587G>A rs886058062 0.00013
NM_000935.2(PLOD2):c.-322G>T rs550383313 0.00010
NM_182943.3(PLOD2):c.*1211C>T rs886058061 0.00010
NM_182943.3(PLOD2):c.*759T>C rs192883327 0.00006
NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg) rs760876151 0.00006
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val) rs558336915 0.00006
NM_182943.3(PLOD2):c.*1049G>T rs576223865 0.00005
NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly) rs759343908 0.00004
NM_182943.3(PLOD2):c.471G>A (p.Val157=) rs761346369 0.00004
NM_182943.3(PLOD2):c.*25A>C rs143499824 0.00003
NM_182943.3(PLOD2):c.*742A>G rs1255788955 0.00003
NM_182943.3(PLOD2):c.-188C>G rs1457359819 0.00003
NM_182943.3(PLOD2):c.616-13T>A rs149019740 0.00003
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=) rs555534138 0.00002
NM_182943.3(PLOD2):c.*63T>G rs1446618037 0.00001
NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val) rs1323985527 0.00001
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) rs750664256 0.00001
NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg) rs148051196 0.00001
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp) rs368177696 0.00001
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys) rs557891596 0.00001
NM_000935.2(PLOD2):c.-286G>T rs1005011385
NM_000935.2(PLOD2):c.-417A>G rs2032580118
NM_000935.2(PLOD2):c.-455C>T rs886058066
NM_000935.2(PLOD2):c.-478G>C rs886058067
NM_182943.3(PLOD2):c.*1034A>C rs1936052669
NM_182943.3(PLOD2):c.*1169T>C rs1576566139
NM_182943.3(PLOD2):c.*148T>C rs886058064
NM_182943.3(PLOD2):c.*292C>T rs886058063
NM_182943.3(PLOD2):c.*418A>T rs1936077742
NM_182943.3(PLOD2):c.*673A>T rs1413215458
NM_182943.3(PLOD2):c.*930A>C rs757669792
NM_182943.3(PLOD2):c.103C>T (p.Pro35Ser) rs1401879984
NM_182943.3(PLOD2):c.121G>A (p.Val41Ile) rs2030399859
NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala) rs775017069
NM_182943.3(PLOD2):c.1626C>T (p.Tyr542=) rs1936359379
NM_182943.3(PLOD2):c.1995G>A (p.Lys665=) rs1936119443
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu) rs764056697
NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr) rs1936980905

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