ClinVar Miner

List of variants in gene PLEC reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) rs73715559 0.03658
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) rs34725742 0.02357
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=) rs62641755 0.01627
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_201384.3(PLEC):c.1374C>T (p.Thr458=) rs115081018 0.01267
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_201384.3(PLEC):c.7260G>A (p.Thr2420=) rs34490562 0.00668
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) rs35613096 0.00651
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219 0.00118
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_201384.3(PLEC):c.6456G>A (p.Ala2152=) rs201072292 0.00086
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=) rs144880376 0.00085
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00081
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) rs367688739 0.00038
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_201384.3(PLEC):c.1650C>T (p.Ser550=) rs541271992 0.00008
NM_201384.3(PLEC):c.3915C>T (p.Val1305=) rs377758049 0.00006
NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln) rs577374823 0.00006
NM_201384.3(PLEC):c.7034G>A (p.Arg2345Gln) rs541098488 0.00006
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His) rs369581930 0.00005
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) rs559736151 0.00004
NM_201384.3(PLEC):c.3407G>A (p.Arg1136Gln) rs782508056 0.00003
NM_201384.3(PLEC):c.6018G>A (p.Ala2006=) rs782381723 0.00003
NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr) rs781931836 0.00003
NM_201384.3(PLEC):c.3623A>C (p.Gln1208Pro) rs1441764984 0.00001
NM_201384.3(PLEC):c.3766G>C (p.Glu1256Gln) rs1384763800 0.00001
NM_201384.3(PLEC):c.3883C>T (p.Pro1295Ser) rs587780419 0.00001
NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp) rs781802082 0.00001
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.1882G>A (p.Glu628Lys) rs1554717101
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup) rs782308502
NM_201384.3(PLEC):c.3301_3302delinsTT (p.Ala1101Phe) rs2131627729
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.472A>G (p.Met158Val) rs1554722990

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.