ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937 0.00138
NM_000285.4(PEPD):c.*40T>A rs375067721 0.00099
NM_000285.4(PEPD):c.834C>T (p.Gly278=) rs371699300 0.00067
NM_000285.4(PEPD):c.1345-11G>C rs374919986 0.00061
NM_000285.4(PEPD):c.100C>T (p.Leu34=) rs376016676 0.00058
NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) rs201865747 0.00049
NM_000285.4(PEPD):c.*127T>C rs149914845 0.00036
NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu) rs200183031 0.00030
NM_000285.4(PEPD):c.447C>T (p.Gly149=) rs375023206 0.00025
NM_000285.4(PEPD):c.1414G>A (p.Val472Met) rs200072143 0.00024
NM_000285.4(PEPD):c.946G>A (p.Val316Ile) rs370219399 0.00019
NM_000285.4(PEPD):c.710G>A (p.Arg237His) rs577079343 0.00014
NM_000285.4(PEPD):c.751T>A (p.Ser251Thr) rs201572375 0.00013
NM_000285.4(PEPD):c.1079G>A (p.Gly360Glu) rs201089253 0.00012
NM_000285.4(PEPD):c.*155G>A rs565481482 0.00009
NM_000285.4(PEPD):c.492C>T (p.Asp164=) rs370105932 0.00009
NM_000285.4(PEPD):c.967+10G>A rs372949783 0.00009
NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser) rs765974570 0.00006
NM_000285.4(PEPD):c.1134C>T (p.Asp378=) rs761553925 0.00005
NM_000285.4(PEPD):c.1281G>A (p.Ala427=) rs183038027 0.00005
NM_000285.4(PEPD):c.-30C>G rs773055268 0.00004
NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys) rs376372688 0.00003
NM_000285.4(PEPD):c.1311C>T (p.Arg437=) rs369197590 0.00003
NM_000285.4(PEPD):c.1344+13G>A rs375401743 0.00003
NM_000285.4(PEPD):c.462C>T (p.Ser154=) rs375631938 0.00003
NM_000285.4(PEPD):c.672-9C>G rs886054336 0.00003
NM_000285.4(PEPD):c.819-4G>A rs370100218 0.00003
NM_000285.4(PEPD):c.-1C>T rs757625583 0.00002
NM_000285.4(PEPD):c.1291C>T (p.Arg431Cys) rs751121493 0.00002
NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys) rs537755422 0.00002
NM_000285.4(PEPD):c.279G>A (p.Ser93=) rs780889402 0.00002
NM_000285.4(PEPD):c.427G>A (p.Val143Ile) rs760506591 0.00002
NM_000285.4(PEPD):c.448G>A (p.Val150Ile) rs755007246 0.00002
NM_000285.4(PEPD):c.736G>A (p.Gly246Ser) rs368547324 0.00002
NM_000285.3(PEPD):c.-38T>C rs752051747 0.00001
NM_000285.3(PEPD):c.-61A>G rs886054337 0.00001
NM_000285.4(PEPD):c.*275C>G rs1968084959 0.00001
NM_000285.4(PEPD):c.-5C>T rs368370973 0.00001
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) rs752440638 0.00001
NM_000285.4(PEPD):c.1153-6C>T rs886054335 0.00001
NM_000285.4(PEPD):c.1156G>A (p.Val386Met) rs886054334 0.00001
NM_000285.4(PEPD):c.1171G>A (p.Glu391Lys) rs886054333 0.00001
NM_000285.4(PEPD):c.1353C>T (p.Ile451=) rs770898814 0.00001
NM_000285.4(PEPD):c.1365C>T (p.Val455=) rs778506447 0.00001
NM_000285.4(PEPD):c.202-7G>A rs763346457 0.00001
NM_000285.4(PEPD):c.393G>A (p.Glu131=) rs771409768 0.00001
NM_000285.4(PEPD):c.402C>T (p.Ser134=) rs373639982 0.00001
NM_000285.4(PEPD):c.624+15G>A rs538519269 0.00001
NM_000285.4(PEPD):c.678C>T (p.Phe226=) rs746307467 0.00001
NM_000285.4(PEPD):c.757G>A (p.Val253Met) rs200450538 0.00001
NM_000285.3(PEPD):c.-130T>C rs886054338
NM_000285.4(PEPD):c.*225T>A rs1738163877
NM_000285.4(PEPD):c.*336_*339dup rs886054332
NM_000285.4(PEPD):c.*96G>A rs1191204610
NM_000285.4(PEPD):c.1292G>A (p.Arg431His) rs763642654
NM_000285.4(PEPD):c.331A>T (p.Ile111Phe) rs755350900

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.