ClinVar Miner

List of variants in gene PLEC reported as 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: 153
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HGVS dbSNP
NM_000445.5(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.5(PLEC):c.10026C>T (p.Ser3342=) rs28657061
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.10047C>T (p.Val3349=) rs35613096
NM_000445.5(PLEC):c.10095C>T (p.Val3365=) rs35775257
NM_000445.5(PLEC):c.10127C>T (p.Thr3376Met) rs34725742
NM_000445.5(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.5(PLEC):c.10341C>T (p.Pro3447=) rs62642463
NM_000445.5(PLEC):c.10377C>A (p.Ala3459=) rs201848957
NM_000445.5(PLEC):c.10419C>T (p.Ser3473=) rs62642461
NM_000445.5(PLEC):c.10578C>T (p.Asn3526=) rs113113366
NM_000445.5(PLEC):c.10632G>A (p.Thr3544=) rs116901140
NM_000445.5(PLEC):c.10737G>A (p.Val3579=) rs368312695
NM_000445.5(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.5(PLEC):c.11067C>T (p.Thr3689=) rs35134741
NM_000445.5(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.5(PLEC):c.11289G>A (p.Pro3763=) rs200273549
NM_000445.5(PLEC):c.11499C>T (p.Thr3833=) rs559510708
NM_000445.5(PLEC):c.11680G>C (p.Asp3894His) rs62642465
NM_000445.5(PLEC):c.11682C>T (p.Asp3894=) rs75833626
NM_000445.5(PLEC):c.11692G>A (p.Gly3898Ser) rs201419047
NM_000445.5(PLEC):c.11801C>T (p.Thr3934Met) rs78461695
NM_000445.5(PLEC):c.11994G>A (p.Ala3998=) rs73715559
NM_000445.5(PLEC):c.12021C>T (p.Ile4007=) rs148865812
NM_000445.5(PLEC):c.12075C>T (p.Pro4025=) rs113137721
NM_000445.5(PLEC):c.12108C>T (p.Arg4036=) rs762178584
NM_000445.5(PLEC):c.12297C>T (p.Phe4099=) rs150427959
NM_000445.5(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.5(PLEC):c.12441G>A (p.Pro4147=) rs146781600
NM_000445.5(PLEC):c.12630C>T (p.Ile4210=) rs199512865
NM_000445.5(PLEC):c.12642C>T (p.Asp4214=) rs11998271
NM_000445.5(PLEC):c.12723C>T (p.Ile4241=) rs111227648
NM_000445.5(PLEC):c.12865G>A (p.Val4289Ile) rs142946078
NM_000445.5(PLEC):c.12957G>A (p.Val4319=) rs199509259
NM_000445.5(PLEC):c.1317G>A (p.Leu439=) rs190791617
NM_000445.5(PLEC):c.13191C>T (p.Ala4397=) rs187810163
NM_000445.5(PLEC):c.13286C>T (p.Thr4429Met) rs113513807
NM_000445.5(PLEC):c.13329G>A (p.Thr4443=) rs115621402
NM_000445.5(PLEC):c.13425C>T (p.Asp4475=) rs192224737
NM_000445.5(PLEC):c.13431G>A (p.Leu4477=) rs534414054
NM_000445.5(PLEC):c.1344+6_1344+7insCAGTCGGTGA rs782710802
NM_000445.5(PLEC):c.1344+8_1344+9insCAGCA rs782124502
NM_000445.5(PLEC):c.13483G>A (p.Ala4495Thr) rs112322162
NM_000445.5(PLEC):c.1455C>T (p.Thr485=) rs115081018
NM_000445.5(PLEC):c.1476G>C (p.Pro492=) rs199865222
NM_000445.5(PLEC):c.1710G>T (p.Glu570Asp) rs201164522
NM_000445.5(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.5(PLEC):c.1833C>T (p.Pro611=) rs185978075
NM_000445.5(PLEC):c.1896+10G>A rs398123396
NM_000445.5(PLEC):c.1897-7C>G rs201141391
NM_000445.5(PLEC):c.1905C>T (p.Ser635=) rs201927593
NM_000445.5(PLEC):c.1959T>A (p.Thr653=) rs377039110
NM_000445.5(PLEC):c.2037C>T (p.Thr679=) rs201835507
NM_000445.5(PLEC):c.2259+9C>G rs114256617
NM_000445.5(PLEC):c.2259+9C>T rs114256617
NM_000445.5(PLEC):c.2298G>A (p.Gln766=) rs116612406
NM_000445.5(PLEC):c.2386-10del rs142120912
NM_000445.5(PLEC):c.2539-7G>A rs372799330
NM_000445.5(PLEC):c.2539-8C>T rs201818691
NM_000445.5(PLEC):c.256-6C>T rs377389860
NM_000445.5(PLEC):c.2589G>A (p.Pro863=) rs116385960
NM_000445.5(PLEC):c.2629G>A (p.Ala877Thr) rs58836306
NM_000445.5(PLEC):c.2694-7C>A rs11990994
NM_000445.5(PLEC):c.26G>A (p.Arg9Gln) rs138978753
NM_000445.5(PLEC):c.2739G>A (p.Leu913=) rs78012434
NM_000445.5(PLEC):c.2913C>T (p.Gly971=) rs145050858
NM_000445.5(PLEC):c.3042C>T (p.Ser1014=) rs149932255
NM_000445.5(PLEC):c.3252G>A (p.Ser1084=) rs371271326
NM_000445.5(PLEC):c.3273C>T (p.Arg1091=) rs73377210
NM_000445.5(PLEC):c.3291G>A (p.Thr1097=) rs375699173
NM_000445.5(PLEC):c.3432C>T (p.Ala1144=) rs145376880
NM_000445.5(PLEC):c.3459G>A (p.Glu1153=) rs11991764
NM_000445.5(PLEC):c.3624C>T (p.Val1208=) rs202185399
NM_000445.5(PLEC):c.3763C>T (p.Arg1255Trp) rs144610086
NM_000445.5(PLEC):c.3798C>T (p.Ala1266=) rs112173070
NM_000445.5(PLEC):c.3826C>A (p.Arg1276=) rs201552166
NM_000445.5(PLEC):c.3838-9A>G rs57461687
NM_000445.5(PLEC):c.3950A>G (p.Lys1317Arg) rs200895043
NM_000445.5(PLEC):c.4164G>A (p.Arg1388=) rs377619355
NM_000445.5(PLEC):c.4182C>T (p.Ala1394=) rs376065732
NM_000445.5(PLEC):c.4243C>T (p.Arg1415Trp) rs188305538
NM_000445.5(PLEC):c.4302G>A (p.Ala1434=) rs185790521
NM_000445.5(PLEC):c.4304C>T (p.Ala1435Val) rs111851716
NM_000445.5(PLEC):c.459T>G (p.Ala153=) rs6993938
NM_000445.5(PLEC):c.4637C>T (p.Ser1546Leu) rs182120395
NM_000445.5(PLEC):c.4638G>A (p.Ser1546=) rs79705634
NM_000445.5(PLEC):c.4641C>T (p.Arg1547=) rs782412831
NM_000445.5(PLEC):c.4716G>A (p.Ala1572=) rs76426116
NM_000445.5(PLEC):c.4725G>A (p.Ala1575=) rs62642470
NM_000445.5(PLEC):c.5109C>T (p.Arg1703=) rs200727084
NM_000445.5(PLEC):c.5163G>A (p.Leu1721=) rs182961574
NM_000445.5(PLEC):c.5163G>C (p.Leu1721=) rs182961574
NM_000445.5(PLEC):c.5246C>T (p.Thr1749Met) rs377665141
NM_000445.5(PLEC):c.5310G>A (p.Ala1770=) rs140406501
NM_000445.5(PLEC):c.5385G>A (p.Leu1795=) rs186670912
NM_000445.5(PLEC):c.5397G>A (p.Ala1799=) rs62642466
NM_000445.5(PLEC):c.546G>A (p.Ser182=) rs398123399
NM_000445.5(PLEC):c.5472C>T (p.Arg1824=) rs551187778
NM_000445.5(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.5(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.5(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.5(PLEC):c.5574G>A (p.Ala1858=) rs201218437
NM_000445.5(PLEC):c.5601C>T (p.Ala1867=) rs374790646
NM_000445.5(PLEC):c.5683C>T (p.Arg1895Trp) rs200543521
NM_000445.5(PLEC):c.5734G>A (p.Ala1912Thr) rs201070741
NM_000445.5(PLEC):c.5754C>T (p.Ile1918=) rs191863619
NM_000445.5(PLEC):c.5793C>T (p.Ser1931=) rs115735672
NM_000445.5(PLEC):c.5946G>A (p.Ala1982=) rs62642469
NM_000445.5(PLEC):c.6102G>A (p.Ala2034=) rs200338935
NM_000445.5(PLEC):c.6140A>C (p.Glu2047Ala) rs367662560
NM_000445.5(PLEC):c.6150C>G (p.Arg2050=) rs376365984
NM_000445.5(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.5(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.5(PLEC):c.6392C>T (p.Ala2131Val) rs201959200
NM_000445.5(PLEC):c.6399G>A (p.Gln2133=) rs556328818
NM_000445.5(PLEC):c.6573C>T (p.Asp2191=) rs575031901
NM_000445.5(PLEC):c.6588G>A (p.Lys2196=) rs199866902
NM_000445.5(PLEC):c.6594G>A (p.Lys2198=) rs184102912
NM_000445.5(PLEC):c.6658C>T (p.Leu2220=) rs28610521
NM_000445.5(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.5(PLEC):c.6822C>T (p.Ile2274=) rs62641755
NM_000445.5(PLEC):c.6838G>A (p.Ala2280Thr) rs62641756
NM_000445.5(PLEC):c.7155G>A (p.Ala2385=) rs146381488
NM_000445.5(PLEC):c.7182G>A (p.Thr2394=) rs202132558
NM_000445.5(PLEC):c.7191C>T (p.Ala2397=) rs80143277
NM_000445.5(PLEC):c.7341G>A (p.Thr2447=) rs34490562
NM_000445.5(PLEC):c.7347C>T (p.Leu2449=) rs117306121
NM_000445.5(PLEC):c.7587G>A (p.Leu2529=) rs187725817
NM_000445.5(PLEC):c.7807C>T (p.Leu2603=) rs11988293
NM_000445.5(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.5(PLEC):c.7961C>G (p.Pro2654Arg) rs184879368
NM_000445.5(PLEC):c.8032C>T (p.Arg2678Trp) rs145977158
NM_000445.5(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000445.5(PLEC):c.8131C>T (p.Arg2711Trp) rs35723243
NM_000445.5(PLEC):c.8263A>G (p.Ile2755Val) rs200061415
NM_000445.5(PLEC):c.8400C>T (p.Ala2800=) rs34534853
NM_000445.5(PLEC):c.8511C>G (p.Ile2837Met) rs62641758
NM_000445.5(PLEC):c.8570A>G (p.Tyr2857Cys) rs199720608
NM_000445.5(PLEC):c.8706C>T (p.Pro2902=) rs183401234
NM_000445.5(PLEC):c.882C>T (p.Asp294=) rs202218097
NM_000445.5(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.5(PLEC):c.9154G>A (p.Val3052Ile) rs35027700
NM_000445.5(PLEC):c.935G>A (p.Arg312Gln) rs188076386
NM_000445.5(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.5(PLEC):c.9432C>T (p.Phe3144=) rs200895343
NM_000445.5(PLEC):c.9489C>T (p.Ala3163=) rs77006429
NM_000445.5(PLEC):c.9504C>T (p.Gly3168=) rs61529674
NM_000445.5(PLEC):c.9516C>T (p.Asp3172=) rs60091617
NM_000445.5(PLEC):c.9639A>G (p.Thr3213=) rs201102719
NM_000445.5(PLEC):c.968G>A (p.Arg323Gln) rs138924815
NM_000445.5(PLEC):c.9714G>A (p.Pro3238=) rs199870482
NM_000445.5(PLEC):c.9858T>A (p.Ser3286=) rs34644439
NM_000445.5(PLEC):c.9976C>T (p.Arg3326Trp) rs142805337

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