ClinVar Miner

List of variants in gene PLEC reported as likely benign for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; 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: 229
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HGVS dbSNP
NM_000445.5(PLEC):c.10065T>C (p.Phe3355=) rs373874723
NM_000445.5(PLEC):c.10124G>A (p.Arg3375Gln) rs556517027
NM_000445.5(PLEC):c.10146C>T (p.Gly3382=) rs782290282
NM_000445.5(PLEC):c.10149C>T (p.Cys3383=) rs782667756
NM_000445.5(PLEC):c.1014C>T (p.Phe338=) rs369363676
NM_000445.5(PLEC):c.10260G>A (p.Ala3420=) rs571563472
NM_000445.5(PLEC):c.10326G>A (p.Ala3442=) rs372914647
NM_000445.5(PLEC):c.10377C>T (p.Ala3459=) rs201848957
NM_000445.5(PLEC):c.10383C>A (p.Thr3461=) rs199879193
NM_000445.5(PLEC):c.10413C>T (p.Thr3471=) rs782488401
NM_000445.5(PLEC):c.10488C>A (p.Ile3496=) rs369578286
NM_000445.5(PLEC):c.10494G>A (p.Thr3498=) rs782728053
NM_000445.5(PLEC):c.10512C>T (p.Pro3504=) rs200509064
NM_000445.5(PLEC):c.10641C>T (p.Asn3547=) rs782578468
NM_000445.5(PLEC):c.10752G>A (p.Val3584=) rs782571355
NM_000445.5(PLEC):c.10809C>T (p.Gly3603=) rs372840016
NM_000445.5(PLEC):c.10812C>T (p.Gly3604=) rs782672000
NM_000445.5(PLEC):c.10821C>T (p.His3607=) rs201867859
NM_000445.5(PLEC):c.11031G>A (p.Glu3677=) rs782756562
NM_000445.5(PLEC):c.11124C>T (p.Ser3708=) rs372793843
NM_000445.5(PLEC):c.11424G>A (p.Ser3808=) rs376719872
NM_000445.5(PLEC):c.11524G>C (p.Gly3842Arg) rs200927137
NM_000445.5(PLEC):c.11557C>T (p.Arg3853Cys) rs781836500
NM_000445.5(PLEC):c.11584G>A (p.Asp3862Asn) rs368824832
NM_000445.5(PLEC):c.11625C>T (p.Asp3875=) rs782496485
NM_000445.5(PLEC):c.11628G>A (p.Pro3876=) rs546817334
NM_000445.5(PLEC):c.11634C>T (p.Thr3878=) rs782756147
NM_000445.5(PLEC):c.11691C>T (p.Thr3897=) rs781944689
NM_000445.5(PLEC):c.11715G>A (p.Ser3905=) rs375097273
NM_000445.5(PLEC):c.11718C>T (p.Asp3906=) rs781888669
NM_000445.5(PLEC):c.11781G>A (p.Ser3927=) rs782549072
NM_000445.5(PLEC):c.11991G>A (p.Gln3997=) rs782710557
NM_000445.5(PLEC):c.1206G>A (p.Val402=) rs375558172
NM_000445.5(PLEC):c.12099G>A (p.Ser4033=) rs201670327
NM_000445.5(PLEC):c.12271G>A (p.Glu4091Lys) rs200206105
NM_000445.5(PLEC):c.12324C>T (p.Thr4108=) rs185022156
NM_000445.5(PLEC):c.12348C>T (p.Gly4116=) rs554609148
NM_000445.5(PLEC):c.12471G>A (p.Thr4157=) rs200575172
NM_000445.5(PLEC):c.1250+9_1250+21del rs781874571
NM_000445.5(PLEC):c.12556C>T (p.Arg4186Cys) rs201069314
NM_000445.5(PLEC):c.12645C>T (p.Gly4215=) rs140191309
NM_000445.5(PLEC):c.12696C>T (p.Ile4232=) rs202116866
NM_000445.5(PLEC):c.12709G>A (p.Ala4237Thr) rs199941693
NM_000445.5(PLEC):c.12801C>T (p.Ala4267=) rs377625103
NM_000445.5(PLEC):c.12862G>A (p.Ala4288Thr) rs200924154
NM_000445.5(PLEC):c.12898C>T (p.Pro4300Ser) rs202040785
NM_000445.5(PLEC):c.12966C>T (p.Thr4322=) rs782708582
NM_000445.5(PLEC):c.13035C>T (p.Thr4345=) rs200622009
NM_000445.5(PLEC):c.13059C>T (p.Thr4353=) rs781832846
NM_000445.5(PLEC):c.13149C>T (p.Phe4383=) rs2855765
NM_000445.5(PLEC):c.13263C>T (p.Thr4421=) rs373958891
NM_000445.5(PLEC):c.13290G>A (p.Pro4430=) rs200338374
NM_000445.5(PLEC):c.13344C>T (p.Thr4448=) rs369202116
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000445.5(PLEC):c.13410G>A (p.Lys4470=) rs1554669288
NM_000445.5(PLEC):c.1344+7_1344+8delinsCA rs1554719894
NM_000445.5(PLEC):c.13530C>T (p.Ser4510=) rs782187551
NM_000445.5(PLEC):c.13560G>A (p.Ser4520=) rs781929758
NM_000445.5(PLEC):c.13578C>T (p.Ala4526=) rs782685276
NM_000445.5(PLEC):c.13590C>T (p.Arg4530=) rs190789703
NM_000445.5(PLEC):c.13722C>G (p.Ala4574=) rs782535880
NM_000445.5(PLEC):c.1386G>A (p.Ala462=) rs369877618
NM_000445.5(PLEC):c.1476G>A (p.Pro492=) rs199865222
NM_000445.5(PLEC):c.1539C>T (p.Thr513=) rs565993927
NM_000445.5(PLEC):c.1587G>C (p.Gln529His) rs571497788
NM_000445.5(PLEC):c.1626C>T (p.Pro542=) rs199968254
NM_000445.5(PLEC):c.1731C>T (p.Ser577=) rs541271992
NM_000445.5(PLEC):c.1744C>T (p.Leu582=) rs1476756357
NM_000445.5(PLEC):c.1749C>T (p.Gly583=) rs369796183
NM_000445.5(PLEC):c.1818+9C>T rs371976170
NM_000445.5(PLEC):c.2028C>T (p.Thr676=) rs1287283415
NM_000445.5(PLEC):c.2036C>T (p.Thr679Ile) rs190470017
NM_000445.5(PLEC):c.2050A>T (p.Ser684Cys) rs199843296
NM_000445.5(PLEC):c.216G>A (p.Lys72=) rs201923141
NM_000445.5(PLEC):c.2175G>A (p.Ala725=) rs373347166
NM_000445.5(PLEC):c.2244C>T (p.Asn748=) rs374712759
NM_000445.5(PLEC):c.2259+10G>A rs781817693
NM_000445.5(PLEC):c.2260-10G>A rs199830463
NM_000445.5(PLEC):c.255+10del rs528031000
NM_000445.5(PLEC):c.2558A>G (p.Asp853Gly) rs369344419
NM_000445.5(PLEC):c.2632G>A (p.Val878Met) rs200647397
NM_000445.5(PLEC):c.2693+10G>A rs539801615
NM_000445.5(PLEC):c.2694-8C>T rs376936955
NM_000445.5(PLEC):c.2817C>T (p.Ala939=) rs558031489
NM_000445.5(PLEC):c.2820G>A (p.Thr940=) rs200436731
NM_000445.5(PLEC):c.2856C>T (p.Ala952=) rs201202488
NM_000445.5(PLEC):c.2866C>T (p.Leu956=) rs369676162
NM_000445.5(PLEC):c.2925C>T (p.Pro975=) rs200482255
NM_000445.5(PLEC):c.3059G>A (p.Arg1020Gln) rs534045685
NM_000445.5(PLEC):c.3150C>T (p.Ile1050=) rs1044868125
NM_000445.5(PLEC):c.3154G>A (p.Glu1052Lys) rs150652392
NM_000445.5(PLEC):c.330C>T (p.Leu110=) rs1554725092
NM_000445.5(PLEC):c.3381G>A (p.Gly1127=) rs1554709079
NM_000445.5(PLEC):c.348C>G (p.Pro116=) rs1554724266
NM_000445.5(PLEC):c.3515C>T (p.Thr1172Met) rs200672373
NM_000445.5(PLEC):c.3669C>T (p.Asp1223=) rs377059744
NM_000445.5(PLEC):c.3729A>C (p.Ala1243=) rs1554707677
NM_000445.5(PLEC):c.3768G>T (p.Arg1256=) rs782037394
NM_000445.5(PLEC):c.3792G>T (p.Pro1264=) rs572124553
NM_000445.5(PLEC):c.3859C>G (p.Arg1287Gly) rs151022876
NM_000445.5(PLEC):c.3861C>T (p.Arg1287=) rs201737115
NM_000445.5(PLEC):c.3897G>A (p.Ala1299=) rs776436826
NM_000445.5(PLEC):c.3954G>A (p.Ala1318=) rs374669316
NM_000445.5(PLEC):c.3966G>A (p.Pro1322=) rs148465219
NM_000445.5(PLEC):c.4039C>T (p.Arg1347Cys) rs372256096
NM_000445.5(PLEC):c.4053C>T (p.Ser1351=) rs375565604
NM_000445.5(PLEC):c.4065A>G (p.Thr1355=) rs535828050
NM_000445.5(PLEC):c.4071G>A (p.Thr1357=) rs782639631
NM_000445.5(PLEC):c.4095C>T (p.Ser1365=) rs145555539
NM_000445.5(PLEC):c.4311C>T (p.Asp1437=) rs111282136
NM_000445.5(PLEC):c.4314G>A (p.Ala1438=) rs2855760
NM_000445.5(PLEC):c.4407G>A (p.Ala1469=) rs369943756
NM_000445.5(PLEC):c.4447G>A (p.Val1483Met) rs186848953
NM_000445.5(PLEC):c.4473C>T (p.Thr1491=) rs372029672
NM_000445.5(PLEC):c.4491G>A (p.Gly1497=) rs782222671
NM_000445.5(PLEC):c.4602C>T (p.Ser1534=) rs372986812
NM_000445.5(PLEC):c.4605G>A (p.Gln1535=) rs370168097
NM_000445.5(PLEC):c.4656C>A (p.Ala1552=) rs782624380
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.5(PLEC):c.4713G>A (p.Gln1571=) rs1554701847
NM_000445.5(PLEC):c.4732C>T (p.Arg1578Cys) rs2857824
NM_000445.5(PLEC):c.4809G>A (p.Ala1603=) rs545266312
NM_000445.5(PLEC):c.4839C>G (p.Ala1613=) rs782073897
NM_000445.5(PLEC):c.4881C>T (p.His1627=) rs149044728
NM_000445.5(PLEC):c.4914G>A (p.Glu1638=) rs753327457
NM_000445.5(PLEC):c.4935C>T (p.Ala1645=) rs7011480
NM_000445.5(PLEC):c.4950G>A (p.Ala1650=) rs782246479
NM_000445.5(PLEC):c.4954G>A (p.Glu1652Lys) rs187338487
NM_000445.5(PLEC):c.5100G>A (p.Ala1700=) rs782031336
NM_000445.5(PLEC):c.5184G>A (p.Ala1728=) rs542255749
NM_000445.5(PLEC):c.5211C>T (p.Ala1737=) rs782055472
NM_000445.5(PLEC):c.5214G>A (p.Ala1738=) rs782100942
NM_000445.5(PLEC):c.5337G>A (p.Glu1779=) rs782572982
NM_000445.5(PLEC):c.5427C>T (p.Ser1809=) rs782138988
NM_000445.5(PLEC):c.5460C>T (p.Ala1820=) rs1174740573
NM_000445.5(PLEC):c.5524C>T (p.Arg1842Trp) rs398123400
NM_000445.5(PLEC):c.5541C>T (p.Ala1847=) rs782259899
NM_000445.5(PLEC):c.5550C>T (p.Asp1850=) rs771101893
NM_000445.5(PLEC):c.5568C>T (p.Ala1856=) rs781998103
NM_000445.5(PLEC):c.5622G>A (p.Arg1874=) rs1359590722
NM_000445.5(PLEC):c.5646G>A (p.Ala1882=) rs782584101
NM_000445.5(PLEC):c.5670C>T (p.Asn1890=) rs782678351
NM_000445.5(PLEC):c.5677C>T (p.Leu1893=) rs781859313
NM_000445.5(PLEC):c.5733C>T (p.Ala1911=) rs375064227
NM_000445.5(PLEC):c.5796G>A (p.Glu1932=) rs782414131
NM_000445.5(PLEC):c.5797C>T (p.Leu1933=) rs142161984
NM_000445.5(PLEC):c.5842C>T (p.Arg1948Trp) rs201278290
NM_000445.5(PLEC):c.5868G>A (p.Ala1956=) rs368886943
NM_000445.5(PLEC):c.5877G>A (p.Ala1959=) rs375568532
NM_000445.5(PLEC):c.5955G>A (p.Thr1985=) rs185082202
NM_000445.5(PLEC):c.6003G>C (p.Gln2001His) rs202190540
NM_000445.5(PLEC):c.6012G>A (p.Ala2004=) rs782739868
NM_000445.5(PLEC):c.6118C>T (p.Arg2040Trp) rs34893635
NM_000445.5(PLEC):c.6165G>A (p.Ala2055=) rs528306324
NM_000445.5(PLEC):c.6177G>C (p.Ser2059=) rs564245730
NM_000445.5(PLEC):c.6193C>T (p.Leu2065=) rs1554694327
NM_000445.5(PLEC):c.621C>T (p.Cys207=) rs189256993
NM_000445.5(PLEC):c.6279G>T (p.Gln2093His) rs201574539
NM_000445.5(PLEC):c.6303C>T (p.Ser2101=) rs370347438
NM_000445.5(PLEC):c.6321C>T (p.Arg2107=) rs576688705
NM_000445.5(PLEC):c.6322G>A (p.Gly2108Ser) rs782450868
NM_000445.5(PLEC):c.6330G>A (p.Ala2110=) rs377026986
NM_000445.5(PLEC):c.6343C>T (p.Arg2115Trp) rs558683670
NM_000445.5(PLEC):c.6384G>A (p.Glu2128=) rs781833947
NM_000445.5(PLEC):c.6441G>A (p.Ser2147=) rs376614483
NM_000445.5(PLEC):c.6480G>A (p.Ala2160=) rs375489890
NM_000445.5(PLEC):c.6505G>A (p.Ala2169Thr) rs370942881
NM_000445.5(PLEC):c.6507C>T (p.Ala2169=) rs200062782
NM_000445.5(PLEC):c.6519G>A (p.Ala2173=) rs374211586
NM_000445.5(PLEC):c.6723G>A (p.Ala2241=) rs559736151
NM_000445.5(PLEC):c.6810C>T (p.Leu2270=) rs368880818
NM_000445.5(PLEC):c.683+5A>G rs200744982
NM_000445.5(PLEC):c.6840A>G (p.Ala2280=) rs201054298
NM_000445.5(PLEC):c.6912G>A (p.Ala2304=) rs782818595
NM_000445.5(PLEC):c.6921C>T (p.Ala2307=) rs202182619
NM_000445.5(PLEC):c.6939G>A (p.Ala2313=) rs200335976
NM_000445.5(PLEC):c.6G>A (p.Ser2=) rs782622551
NM_000445.5(PLEC):c.7050G>A (p.Thr2350=) rs531846605
NM_000445.5(PLEC):c.7143G>A (p.Ala2381=) rs375587611
NM_000445.5(PLEC):c.7179G>T (p.Arg2393=) rs79489944
NM_000445.5(PLEC):c.7242G>A (p.Leu2414=) rs781982762
NM_000445.5(PLEC):c.7310C>T (p.Ala2437Val) rs543422533
NM_000445.5(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.5(PLEC):c.7420C>T (p.Arg2474Cys) rs781936848
NM_000445.5(PLEC):c.7488G>T (p.Leu2496=) rs1472405455
NM_000445.5(PLEC):c.7507-9C>T rs782247843
NM_000445.5(PLEC):c.7545G>A (p.Thr2515=) rs560896222
NM_000445.5(PLEC):c.7767C>T (p.Ala2589=) rs534269714
NM_000445.5(PLEC):c.7839G>C (p.Leu2613=) rs1554688142
NM_000445.5(PLEC):c.7902C>T (p.Ala2634=) rs398123402
NM_000445.5(PLEC):c.7911G>T (p.Ala2637=) rs376112916
NM_000445.5(PLEC):c.8079G>A (p.Ala2693=) rs367665604
NM_000445.5(PLEC):c.8115G>A (p.Thr2705=) rs782195564
NM_000445.5(PLEC):c.8121C>T (p.Asp2707=) rs373341589
NM_000445.5(PLEC):c.8127C>T (p.Leu2709=) rs375590561
NM_000445.5(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_000445.5(PLEC):c.8250C>T (p.Pro2750=) rs375387549
NM_000445.5(PLEC):c.8256G>C (p.Thr2752=) rs1209777415
NM_000445.5(PLEC):c.8282C>T (p.Ala2761Val) rs200202579
NM_000445.5(PLEC):c.8397C>T (p.Arg2799=) rs782420340
NM_000445.5(PLEC):c.840C>T (p.Thr280=) rs377118309
NM_000445.5(PLEC):c.8511C>T (p.Ile2837=) rs62641758
NM_000445.5(PLEC):c.8520C>T (p.Gly2840=) rs201932982
NM_000445.5(PLEC):c.8523C>T (p.Gly2841=) rs186703073
NM_000445.5(PLEC):c.8526T>C (p.Val2842=) rs371421350
NM_000445.5(PLEC):c.8535C>T (p.Pro2845=) rs782419323
NM_000445.5(PLEC):c.853C>T (p.Leu285=) rs372233686
NM_000445.5(PLEC):c.8590G>A (p.Glu2864Lys) rs199661077
NM_000445.5(PLEC):c.8593G>A (p.Glu2865Lys) rs201166060
NM_000445.5(PLEC):c.8613G>C (p.Ala2871=) rs782732824
NM_000445.5(PLEC):c.8643T>C (p.Phe2881=) rs782794582
NM_000445.5(PLEC):c.873C>T (p.Arg291=) rs782391508
NM_000445.5(PLEC):c.8823C>T (p.Phe2941=) rs201211875
NM_000445.5(PLEC):c.8880C>T (p.Phe2960=) rs371751910
NM_000445.5(PLEC):c.9159C>T (p.Ile3053=) rs201586456
NM_000445.5(PLEC):c.9162G>A (p.Ala3054=) rs199758196
NM_000445.5(PLEC):c.916C>T (p.Leu306=) rs1554721575
NM_000445.5(PLEC):c.9396C>T (p.Tyr3132=) rs886044818
NM_000445.5(PLEC):c.9402C>T (p.Asp3134=) rs371887211
NM_000445.5(PLEC):c.9405C>T (p.Pro3135=) rs977397939
NM_000445.5(PLEC):c.9660C>T (p.Gly3220=) rs782053941
NM_000445.5(PLEC):c.9684C>T (p.Pro3228=) rs538001056
NM_000445.5(PLEC):c.9744G>A (p.Gln3248=) rs1554680814
NM_000445.5(PLEC):c.9771C>T (p.Ala3257=) rs782488286
NM_000445.5(PLEC):c.978G>A (p.Thr326=) rs377035835
NM_000445.5(PLEC):c.9799G>A (p.Glu3267Lys) rs75857070
NM_000445.5(PLEC):c.9837G>A (p.Thr3279=) rs782717194
NM_000445.5(PLEC):c.9881G>A (p.Arg3294Gln) rs199603833
NM_000445.5(PLEC):c.9954C>T (p.Ile3318=) rs376133886

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