ClinVar Miner

List of variants in gene PEX19 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_002857.4(PEX19):c.*864C>T rs144938105 0.00132
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_002857.4(PEX19):c.*1069G>A rs542626903 0.00084
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_002857.4(PEX19):c.*1335G>T rs748536788 0.00044
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_002857.4(PEX19):c.*2717A>G rs574056299 0.00032
NM_002857.4(PEX19):c.*2224G>T rs573966291 0.00021
NM_002857.4(PEX19):c.*2536A>G rs141829599 0.00021
NM_002857.4(PEX19):c.*1980T>C rs372976790 0.00018
NM_002857.4(PEX19):c.*2413C>T rs183164292 0.00018
NM_002857.4(PEX19):c.*77del rs771535781 0.00015
NM_002857.4(PEX19):c.*854G>A rs747191827 0.00014
NM_002857.4(PEX19):c.*1013G>A rs747057473 0.00011
NM_002857.4(PEX19):c.*1145C>T rs75916849 0.00008
NM_002857.4(PEX19):c.*1163T>C rs575199724 0.00008
NM_002857.4(PEX19):c.*1745T>C rs186821837 0.00007
NM_002857.4(PEX19):c.*1852C>G rs370387085 0.00007
NM_002857.4(PEX19):c.*1761C>A rs761868324 0.00006
NM_002857.4(PEX19):c.*2068T>C rs536872409 0.00006
NM_002857.4(PEX19):c.*427A>G rs886045447 0.00006
NM_002857.4(PEX19):c.347-7C>T rs753523567 0.00006
NM_002857.4(PEX19):c.*1103C>T rs561417695 0.00005
NM_002857.4(PEX19):c.*662C>T rs773981843 0.00004
NM_002857.4(PEX19):c.*1592G>A rs779471097 0.00003
NM_002857.4(PEX19):c.*2555T>G rs148123121 0.00003
NM_002857.4(PEX19):c.*896A>G rs886045445 0.00003
NM_002857.3(PEX19):c.-17A>C rs748844578 0.00002
NM_002857.4(PEX19):c.*2383C>G rs369641116 0.00002
NM_002857.4(PEX19):c.*1330G>A rs886045442 0.00001
NM_002857.4(PEX19):c.*138C>T rs770138698 0.00001
NM_002857.4(PEX19):c.*1450T>A rs886045441 0.00001
NM_002857.4(PEX19):c.*2155C>T rs886045439 0.00001
NM_002857.4(PEX19):c.*469C>T rs886045446 0.00001
NM_002857.4(PEX19):c.*716C>A rs1201331563 0.00001
NM_002857.4(PEX19):c.*741C>T rs1288025465 0.00001
NM_002857.4(PEX19):c.*971G>A rs543861713 0.00001
NM_002857.4(PEX19):c.432+2T>C rs757078881 0.00001
NM_002857.4(PEX19):c.*1462C>G rs1233628177
NM_002857.4(PEX19):c.*172G>C rs886045449
NM_002857.4(PEX19):c.*1790A>G rs886045440
NM_002857.4(PEX19):c.*2417CT[2] rs143491060
NM_002857.4(PEX19):c.*361G>A rs886045448
NM_002857.4(PEX19):c.*582G>A rs1657648265
NM_002857.4(PEX19):c.*934A>G rs886045444
NM_002857.4(PEX19):c.*998G>A rs886045443
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.149C>A (p.Pro50His) rs11550117
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805

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.