ClinVar Miner

List of variants reported as uncertain significance for chondrodysplasia with joint dislocations, gPAPP type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_017813.5(BPNT2):c.*5463G>C rs542901433 0.00447
NM_017813.5(BPNT2):c.*4264G>A rs557759212 0.00280
NM_017813.5(BPNT2):c.-155C>G rs548420336 0.00240
NM_017813.5(BPNT2):c.*1952C>T rs557911505 0.00191
NM_017813.5(BPNT2):c.*2009C>T rs572808187 0.00187
NM_017813.5(BPNT2):c.*5786T>C rs540469466 0.00170
NM_017813.5(BPNT2):c.*1018T>C rs559826487 0.00158
NM_017813.5(BPNT2):c.-274G>C rs534138309 0.00140
NM_017813.5(BPNT2):c.*2607C>T rs535290326 0.00131
NM_017813.5(BPNT2):c.*5193A>G rs187645072 0.00083
NM_017813.5(BPNT2):c.*3957C>A rs576091200 0.00076
NM_017813.5(BPNT2):c.*3653C>A rs139386127 0.00069
NM_017813.5(BPNT2):c.*2444A>G rs571215531 0.00067
NM_017813.5(BPNT2):c.*2181G>A rs563676770 0.00059
NM_017813.5(BPNT2):c.*2825C>T rs772899410 0.00049
NM_017813.5(BPNT2):c.*4098G>A rs537111107 0.00049
NM_017813.5(BPNT2):c.*4496C>T rs561898077 0.00048
NM_017813.5(BPNT2):c.*2088A>G rs552701929 0.00043
NM_017813.5(BPNT2):c.560G>A (p.Arg187Gln) rs139520829 0.00043
NM_017813.5(BPNT2):c.*2630A>T rs550541748 0.00039
NM_017813.5(BPNT2):c.*4037T>C rs556920716 0.00034
NM_017813.5(BPNT2):c.*553A>G rs558479690 0.00034
NM_017813.5(BPNT2):c.*1996C>T rs774651793 0.00033
NM_017813.5(BPNT2):c.*1123C>A rs369301033 0.00032
NM_017813.5(BPNT2):c.*2138A>G rs376088755 0.00030
NM_017813.5(BPNT2):c.*2166G>A rs536061073 0.00029
NM_017813.5(BPNT2):c.*4638T>C rs554163212 0.00029
NM_017813.5(BPNT2):c.*3060T>C rs374899060 0.00025
NM_017813.5(BPNT2):c.*2005G>A rs190988215 0.00024
NM_017813.5(BPNT2):c.*2058C>T rs534716448 0.00024
NM_017813.5(BPNT2):c.*4971C>T rs547359586 0.00024
NM_017813.5(BPNT2):c.*3505T>C rs564098310 0.00023
NM_017813.5(BPNT2):c.*5354A>G rs575841443 0.00023
NM_017813.5(BPNT2):c.*3679A>G rs542544930 0.00022
NM_017813.5(BPNT2):c.*5300G>T rs540499421 0.00019
NM_017813.5(BPNT2):c.*4251T>C rs548002917 0.00018
NM_017813.5(BPNT2):c.*3619A>G rs541028421 0.00016
NM_017813.5(BPNT2):c.987C>T (p.Asp329=) rs34467829 0.00016
NM_017813.5(BPNT2):c.*106G>A rs952458280 0.00014
NM_017813.5(BPNT2):c.*3258T>G rs139817494 0.00014
NM_017813.5(BPNT2):c.*3922C>G rs182015125 0.00014
NM_017813.5(BPNT2):c.*4366G>A rs534618768 0.00011
NM_017813.5(BPNT2):c.*4845A>G rs184184001 0.00011
NM_017813.5(BPNT2):c.*5395A>G rs561796338 0.00010
NM_017813.5(BPNT2):c.*5803C>T rs773624024 0.00010
NM_017813.5(BPNT2):c.336G>A (p.Leu112=) rs148820865 0.00010
NM_017813.5(BPNT2):c.*3054C>A rs922070735 0.00009
NM_017813.5(BPNT2):c.*3408A>G rs980053098 0.00009
NM_017813.5(BPNT2):c.*4873G>A rs372370877 0.00009
NM_017813.5(BPNT2):c.1041C>T (p.Val347=) rs372925433 0.00009
NM_017813.5(BPNT2):c.*70G>T rs371111058 0.00008
NM_017813.5(BPNT2):c.*1338C>G rs543588217 0.00006
NM_017813.5(BPNT2):c.*2993C>G rs886063005 0.00006
NM_017813.5(BPNT2):c.*3173C>T rs757689543 0.00006
NM_017813.5(BPNT2):c.-131C>T rs568839316 0.00006
NM_017813.5(BPNT2):c.-16C>T rs1463456532 0.00006
NM_017813.5(BPNT2):c.704A>G (p.Lys235Arg) rs367881909 0.00006
NM_017813.5(BPNT2):c.*2047T>C rs780536671 0.00005
NM_017813.5(BPNT2):c.*5203A>T rs886063001 0.00005
NM_017813.5(BPNT2):c.*2649C>A rs768963800 0.00004
NM_017813.5(BPNT2):c.*4589A>G rs1051468845 0.00004
NM_017813.5(BPNT2):c.*461G>A rs1362198903 0.00004
NM_017813.5(BPNT2):c.*929A>T rs1179151792 0.00004
NM_017813.5(BPNT2):c.*2726T>G rs886063006 0.00003
NM_017813.5(BPNT2):c.*3193T>C rs886063004 0.00003
NM_017813.5(BPNT2):c.*4434C>T rs1180232805 0.00003
NM_017813.5(BPNT2):c.954G>A (p.Leu318=) rs552550687 0.00003
NM_017813.5(BPNT2):c.*5804G>A rs886062999 0.00002
NM_017813.5(BPNT2):c.*133C>G rs1327919210 0.00001
NM_017813.5(BPNT2):c.*14C>T rs886063018 0.00001
NM_017813.5(BPNT2):c.*2165C>T rs886063009 0.00001
NM_017813.5(BPNT2):c.*2458G>T rs886063007 0.00001
NM_017813.5(BPNT2):c.*2512T>C rs1805828214 0.00001
NM_017813.5(BPNT2):c.*2544G>A rs987628492 0.00001
NM_017813.5(BPNT2):c.*2674G>A rs775806342 0.00001
NM_017813.5(BPNT2):c.*4102A>G rs1805796117 0.00001
NM_017813.5(BPNT2):c.*4250A>G rs1480185148 0.00001
NM_017813.5(BPNT2):c.*4331G>A rs921081409 0.00001
NM_017813.5(BPNT2):c.*447C>T rs1194466743 0.00001
NM_017813.5(BPNT2):c.*5289C>T rs1563401741 0.00001
NM_017813.5(BPNT2):c.-279T>C rs886063022 0.00001
NM_017813.5(BPNT2):c.652G>T (p.Ala218Ser) rs376366002 0.00001
NM_017813.5(BPNT2):c.988G>A (p.Gly330Ser) rs138502852 0.00001
NM_017813.5(BPNT2):c.*1084C>T rs886063015
NM_017813.5(BPNT2):c.*1314G>A rs749994859
NM_017813.5(BPNT2):c.*1328C>T rs913850270
NM_017813.5(BPNT2):c.*1343A>G rs879131458
NM_017813.5(BPNT2):c.*1620A>G rs886063013
NM_017813.5(BPNT2):c.*1652T>G rs1241258925
NM_017813.5(BPNT2):c.*1800G>A rs1805846047
NM_017813.5(BPNT2):c.*1834A>G rs886063012
NM_017813.5(BPNT2):c.*1960A>G rs886063011
NM_017813.5(BPNT2):c.*2141T>C rs886063010
NM_017813.5(BPNT2):c.*2475T>C rs1805828928
NM_017813.5(BPNT2):c.*3235A>C rs886063003
NM_017813.5(BPNT2):c.*3739C>T rs764103475
NM_017813.5(BPNT2):c.*3805C>T rs1805803508
NM_017813.5(BPNT2):c.*3876T>A rs886063002
NM_017813.5(BPNT2):c.*3927T>C rs1585551468
NM_017813.5(BPNT2):c.*396A>T rs760278407
NM_017813.5(BPNT2):c.*4403T>C rs1805790218
NM_017813.5(BPNT2):c.*4913G>A rs538654531
NM_017813.5(BPNT2):c.*5160C>A rs1805777773
NM_017813.5(BPNT2):c.*5327C>G rs200958042
NM_017813.5(BPNT2):c.*5339T>C rs1805775050
NM_017813.5(BPNT2):c.*5607C>A rs781048135
NM_017813.5(BPNT2):c.*5692A>G rs755055338
NM_017813.5(BPNT2):c.*5752G>A rs886063000
NM_017813.5(BPNT2):c.*5821C>T rs886062998
NM_017813.5(BPNT2):c.*928G>C rs979380733
NM_017813.5(BPNT2):c.-252G>C rs886063021
NM_017813.5(BPNT2):c.138C>T (p.Gly46=) rs1806454194
NM_017813.5(BPNT2):c.21C>T (p.Arg7=) rs1806456546
NM_017813.5(BPNT2):c.268C>T (p.Leu90Phe) rs750573329
NM_017813.5(BPNT2):c.355T>C (p.Tyr119His) rs886063020
NM_017813.5(BPNT2):c.551-2A>G rs1411579945
NM_017813.5(BPNT2):c.687C>T (p.Arg229=) rs886063019
NM_017813.5(BPNT2):c.738A>G (p.Ser246=) rs1805948487

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