ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 13A (Zellweger) by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_004565.3(PEX14):c.*576A>G rs530124005 0.00170
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351 0.00057
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614 0.00013
NM_004565.3(PEX14):c.*369A>G rs977546775 0.00012
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820 0.00011
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004565.3(PEX14):c.766G>A (p.Val256Met) rs143378690 0.00009
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu) rs201979629 0.00006
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137 0.00006
NM_004565.3(PEX14):c.911A>T (p.Asp304Val) rs199860518 0.00006
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184 0.00004
NM_004565.3(PEX14):c.860C>T (p.Thr287Met) rs376758920 0.00004
NM_004565.3(PEX14):c.*564C>T rs561807671 0.00003
NM_004565.3(PEX14):c.*7G>T rs367982022 0.00003
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp) rs770183471 0.00003
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513 0.00003
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004565.3(PEX14):c.*256A>G rs373498478 0.00001
NM_004565.3(PEX14):c.*459T>C rs954625667 0.00001
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) rs778315559 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.888G>T (p.Gln296His) rs1358510161 0.00001
NM_004565.3(PEX14):c.912C>T (p.Asp304=) rs1202283239 0.00001
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265 0.00001
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*570C>T rs1641898212
NM_004565.3(PEX14):c.*616C>T rs541842608
NM_004565.3(PEX14):c.*685A>T rs1156589089
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr) rs758355392
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017

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.