ClinVar Miner

List of variants in gene PLEC reported as benign for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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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.1264-15G>A rs7003580 0.45916
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
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.3841-18C>T rs62522552 0.14837
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.3261-13G>A rs11991798 0.08644
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.265-16C>G rs11993492 0.05821
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.5316G>A (p.Ala1772=) rs62642466 0.02329
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
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.2305-10del rs142120912 0.01228
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.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
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.11940C>T (p.Ile3980=) rs148865812 0.00674
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.2961C>T (p.Ser987=) rs149932255 0.00603
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_201384.3(PLEC):c.175-6C>T rs377389860 0.00541
NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg) rs200895043 0.00541
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_201384.3(PLEC):c.1629G>T (p.Glu543Asp) rs201164522 0.00508
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_000445.5(PLEC):c.26G>A (p.Arg9Gln) rs138978753 0.00470
NM_201384.3(PLEC):c.13248G>A (p.Thr4416=) rs115621402 0.00455
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00439
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_201384.3(PLEC):c.13402G>A (p.Ala4468Thr) rs112322162 0.00409
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_201384.3(PLEC):c.4044+16C>T rs182039608 0.00379
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) rs184102912 0.00374
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_201384.3(PLEC):c.10338C>T (p.Ser3446=) rs62642461 0.00361
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00330
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00247
NM_201384.3(PLEC):c.602+12C>T rs184306103 0.00235
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) rs113137721 0.00225
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_201384.3(PLEC):c.7356C>T (p.Ile2452=) rs199958797 0.00191
NM_201384.3(PLEC):c.2544G>A (p.Glu848=) rs199938048 0.00180
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326 0.00174
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00171
NM_201384.3(PLEC):c.5493G>A (p.Ala1831=) rs201218437 0.00168
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=) rs201102719 0.00161
NM_201384.3(PLEC):c.10497C>T (p.Asn3499=) rs113113366 0.00160
NM_201384.3(PLEC):c.2458-8C>T rs201818691 0.00159
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) rs375699173 0.00158
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00157
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_201384.3(PLEC):c.7425+16C>T rs138961280 0.00149
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234 0.00149
NM_201384.3(PLEC):c.1824C>T (p.Ser608=) rs201927593 0.00144
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=) rs200444977 0.00144
NM_201384.3(PLEC):c.9408C>T (p.Ala3136=) rs77006429 0.00138
NM_201384.3(PLEC):c.172A>G (p.Lys58Glu) rs199985628 0.00136
NM_201384.3(PLEC):c.12876G>A (p.Val4292=) rs199509259 0.00129
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_201384.3(PLEC):c.10260C>T (p.Pro3420=) rs62642463 0.00119
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) rs551187778 0.00110
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) rs202132558 0.00108
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=) rs201096903 0.00104
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329 0.00101
NM_201384.3(PLEC):c.9633G>A (p.Pro3211=) rs199870482 0.00098
NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser) rs201419047 0.00094
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00093
NM_201384.3(PLEC):c.10656G>A (p.Val3552=) rs368312695 0.00091
NM_201384.3(PLEC):c.2508G>A (p.Pro836=) rs116385960 0.00086
NM_201384.3(PLEC):c.6456G>A (p.Ala2152=) rs201072292 0.00086
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00084
NM_201384.3(PLEC):c.2083-20C>T rs374681191 0.00083
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00081
NM_201384.3(PLEC):c.1878T>A (p.Thr626=) rs377039110 0.00080
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=) rs375914011 0.00077
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_201384.3(PLEC):c.5772G>C (p.Glu1924Asp) rs782273453 0.00068
NM_201384.3(PLEC):c.2425C>T (p.Leu809=) rs771803576 0.00064
NM_201384.3(PLEC):c.5065C>T (p.Leu1689=) rs371126082 0.00063
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00062
NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp) rs200543521 0.00059
NM_201384.3(PLEC):c.13149C>T (p.Ala4383=) rs199719299 0.00057
NM_201384.3(PLEC):c.4162C>T (p.Arg1388Trp) rs188305538 0.00057
NM_201384.3(PLEC):c.6021G>A (p.Ala2007=) rs200338935 0.00053
NM_201384.3(PLEC):c.11164C>T (p.Leu3722=) rs375598997 0.00049
NM_201384.3(PLEC):c.6300G>A (p.Ala2100=) rs188154081 0.00048
NM_201384.3(PLEC):c.921C>T (p.Phe307=) rs546380802 0.00047
NM_201384.3(PLEC):c.5028C>T (p.Arg1676=) rs200727084 0.00041
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) rs191863619 0.00036
NM_201384.3(PLEC):c.13344C>T (p.Asp4448=) rs192224737 0.00035
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_201384.3(PLEC):c.9186C>T (p.Ala3062=) rs377371180 0.00033
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser) rs189233521 0.00031
NM_201384.3(PLEC):c.4707G>A (p.Thr1569=) rs398123398 0.00029
NM_201384.3(PLEC):c.2901G>T (p.Gln967His) rs781913031 0.00027
NM_201384.3(PLEC):c.252G>A (p.Ser84=) rs570408268 0.00026
NM_201384.3(PLEC):c.4221G>A (p.Ala1407=) rs185790521 0.00025
NM_201384.3(PLEC):c.3756+13C>T rs201040617 0.00023
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val) rs189137260 0.00021
NM_201384.3(PLEC):c.4101C>T (p.Ala1367=) rs376065732 0.00021
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=) rs150427959 0.00019
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=) rs782412831 0.00017
NM_201384.3(PLEC):c.6492C>T (p.Asp2164=) rs575031901 0.00017
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097 0.00017
NM_201384.3(PLEC):c.1284A>G (p.Ala428=) rs189174850 0.00016
NM_201384.3(PLEC):c.2535C>T (p.Ser845=) rs199721954 0.00016
NM_201384.3(PLEC):c.10551G>A (p.Thr3517=) rs116901140 0.00015
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=) rs374790646 0.00015
NM_201384.3(PLEC):c.6156G>A (p.Lys2052=) rs782488625 0.00015
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=) rs531535217 0.00012
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) rs762178584 0.00011
NM_201384.3(PLEC):c.1815+10G>A rs398123396 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg) rs576369528 0.00010
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00009
NM_201384.3(PLEC):c.1816-7C>G rs201141391 0.00006
NM_201384.3(PLEC):c.6059A>C (p.Glu2020Ala) rs367662560 0.00006
NM_201384.3(PLEC):c.7029G>A (p.Ala2343=) rs559198172 0.00006
NM_201384.3(PLEC):c.9342C>T (p.Val3114=) rs541882395 0.00006
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506 0.00003
NM_201384.3(PLEC):c.4083G>A (p.Arg1361=) rs377619355 0.00003
NM_201384.3(PLEC):c.10248C>T (p.Gly3416=) rs200805625 0.00001
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=) rs80304210 0.00001
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=) rs782692436 0.00001
NM_201384.3(PLEC):c.12549C>T (p.Ile4183=) rs199512865 0.00001
NM_201384.3(PLEC):c.465G>A (p.Ser155=) rs398123399 0.00001
NM_201384.3(PLEC):c.7506G>A (p.Leu2502=) rs187725817 0.00001
NM_201384.3(PLEC):c.8877C>A (p.Ile2959=) rs573682644 0.00001
NM_201378.4(PLEC):c.70+12dup rs1406818581
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.12996C>T (p.Val4332=)
NM_201384.3(PLEC):c.13350G>A (p.Leu4450=) rs534414054
NM_201384.3(PLEC):c.1395G>C (p.Pro465=) rs199865222
NM_201384.3(PLEC):c.1816-15C>T rs782723953
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.2178+9C>T rs114256617
NM_201384.3(PLEC):c.2179-15del
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.2305-11del
NM_201384.3(PLEC):c.2612+18A>T rs572842527
NM_201384.3(PLEC):c.2748C>T (p.Thr916=) rs372942259
NM_201384.3(PLEC):c.3081+19del
NM_201384.3(PLEC):c.3081+19dup rs782004958
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
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.4045-26TCT[2]
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5082G>C (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.6318G>A (p.Gln2106=) rs556328818
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.8019G>A (p.Ala2673=) rs374178650
NM_201384.3(PLEC):c.8430C>G (p.Ile2810Met) rs62641758
NM_201384.3(PLEC):c.945+18G>C
NM_201384.3(PLEC):c.945+19dup rs782770561

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