ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000285.4(PEPD):c.*211T>C rs3556 0.31307
NM_000285.4(PEPD):c.1303C>T (p.Leu435Phe) rs17570 0.31124
NM_000285.4(PEPD):c.*52T>C rs1061338 0.29004
NM_000285.4(PEPD):c.1131C>T (p.His377=) rs17569 0.10725
NM_000285.4(PEPD):c.660T>C (p.Tyr220=) rs3745969 0.03110
NM_000285.4(PEPD):c.744T>C (p.Gly248=) rs74988985 0.01436
NM_000285.4(PEPD):c.863T>C (p.Ile288Thr) rs139214756 0.00669
NM_000285.4(PEPD):c.1256A>G (p.Asp419Gly) rs142070498 0.00426
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00332
NM_000285.4(PEPD):c.1163G>A (p.Arg388His) rs2230062 0.00278
NM_000285.4(PEPD):c.*53C>T rs77690463 0.00265
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451 0.00228
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937 0.00138
NM_000285.4(PEPD):c.456G>A (p.Thr152=) rs200011486 0.00124
NM_000285.4(PEPD):c.*40T>A rs375067721 0.00099
NM_000285.4(PEPD):c.1329T>C (p.Phe443=) rs2230063 0.00081
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 0.00015
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.504-9G>A rs75766592 0.00012
NM_000285.4(PEPD):c.*155G>A rs565481482 0.00009
NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln) rs561611888 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.1385T>C (p.Ile462Thr) rs201222933 0.00008
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.1342G>A (p.Gly448Arg) rs121917724 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.1317C>T (p.Val439=) rs369183873 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.*175_*178dup rs16426
NM_000285.4(PEPD):c.*225T>A rs1738163877
NM_000285.4(PEPD):c.*333_*337dup rs140842
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.1470T>C (p.Ser490=) rs529823817
NM_000285.4(PEPD):c.331A>T (p.Ile111Phe) rs755350900
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191

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