ClinVar Miner

Variants with conflicting interpretations studied 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

Coded as:
Minimum review status of the submission 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: Y axis collection method of the submission 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 review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
385 200 0 128 149 0 0 260

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
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 pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0
uncertain significance 0 0 32 0
likely benign 0 97 0 10
benign 0 20 117 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 101 0 125 42 0 0 164
not provided 0 178 0 9 115 0 0 123
Arrhythmogenic right ventricular dysplasia, familial 1 0 2 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 260
Download table as spreadsheet
HGVS dbSNP
NM_000445.4(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.4(PLEC):c.10026C>T (p.Ser3342=) rs28657061
NM_000445.4(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.4(PLEC):c.10047C>T (p.Val3349=) rs35613096
NM_000445.4(PLEC):c.10095C>T (p.Val3365=) rs35775257
NM_000445.4(PLEC):c.10127C>T (p.Thr3376Met) rs34725742
NM_000445.4(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.4(PLEC):c.1014C>T (p.Phe338=) rs369363676
NM_000445.4(PLEC):c.10186G>T (p.Val3396Leu) rs201373953
NM_000445.4(PLEC):c.10211G>A (p.Arg3404Gln) rs375724891
NM_000445.4(PLEC):c.10341C>T (p.Pro3447=) rs62642463
NM_000445.4(PLEC):c.10377C>A (p.Ala3459=) rs201848957
NM_000445.4(PLEC):c.10383C>A (p.Thr3461=) rs199879193
NM_000445.4(PLEC):c.10419C>T (p.Ser3473=) rs62642461
NM_000445.4(PLEC):c.10494G>A (p.Thr3498=) rs782728053
NM_000445.4(PLEC):c.10512C>T (p.Pro3504=) rs200509064
NM_000445.4(PLEC):c.10578C>T (p.Asn3526=) rs113113366
NM_000445.4(PLEC):c.10579C>T (p.Arg3527Cys) rs200541837
NM_000445.4(PLEC):c.10737G>A (p.Val3579=) rs368312695
NM_000445.4(PLEC):c.10778C>T (p.Ala3593Val) rs782700068
NM_000445.4(PLEC):c.10809C>T (p.Gly3603=) rs372840016
NM_000445.4(PLEC):c.10821C>T (p.His3607=) rs201867859
NM_000445.4(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.4(PLEC):c.11067C>T (p.Thr3689=) rs35134741
NM_000445.4(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.4(PLEC):c.11499C>T (p.Thr3833=) rs559510708
NM_000445.4(PLEC):c.11557C>T (p.Arg3853Cys) rs781836500
NM_000445.4(PLEC):c.11584G>A (p.Asp3862Asn) rs368824832
NM_000445.4(PLEC):c.11680G>C (p.Asp3894His) rs62642465
NM_000445.4(PLEC):c.11682C>T (p.Asp3894=) rs75833626
NM_000445.4(PLEC):c.11692G>A (p.Gly3898Ser) rs201419047
NM_000445.4(PLEC):c.11715G>A (p.Ser3905=) rs375097273
NM_000445.4(PLEC):c.11801C>T (p.Thr3934Met) rs78461695
NM_000445.4(PLEC):c.11816G>A (p.Arg3939Gln) rs781960031
NM_000445.4(PLEC):c.11991G>A (p.Gln3997=) rs782710557
NM_000445.4(PLEC):c.11994G>A (p.Ala3998=) rs73715559
NM_000445.4(PLEC):c.12075C>T (p.Pro4025=) rs113137721
NM_000445.4(PLEC):c.12108C>T (p.Arg4036=) rs762178584
NM_000445.4(PLEC):c.12271G>A (p.Glu4091Lys) rs200206105
NM_000445.4(PLEC):c.12297C>T (p.Phe4099=) rs150427959
NM_000445.4(PLEC):c.12324C>T (p.Thr4108=) rs185022156
NM_000445.4(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.4(PLEC):c.12441G>A (p.Pro4147=) rs146781600
NM_000445.4(PLEC):c.12556C>T (p.Arg4186Cys) rs201069314
NM_000445.4(PLEC):c.12642C>T (p.Asp4214=) rs11998271
NM_000445.4(PLEC):c.12645C>T (p.Gly4215=) rs140191309
NM_000445.4(PLEC):c.12696C>T (p.Ile4232=) rs202116866
NM_000445.4(PLEC):c.12723C>T (p.Ile4241=) rs111227648
NM_000445.4(PLEC):c.12752C>G (p.Ala4251Gly) rs368212208
NM_000445.4(PLEC):c.12799G>A (p.Ala4267Thr) rs201688261
NM_000445.4(PLEC):c.12862G>A (p.Ala4288Thr) rs200924154
NM_000445.4(PLEC):c.12898C>T (p.Pro4300Ser) rs202040785
NM_000445.4(PLEC):c.12957G>A (p.Val4319=) rs199509259
NM_000445.4(PLEC):c.13059C>T (p.Thr4353=) rs781832846
NM_000445.4(PLEC):c.13149C>T (p.Phe4383=) rs2855765
NM_000445.4(PLEC):c.13191C>T (p.Ala4397=) rs187810163
NM_000445.4(PLEC):c.13263C>T (p.Thr4421=) rs373958891
NM_000445.4(PLEC):c.13286C>T (p.Thr4429Met) rs113513807
NM_000445.4(PLEC):c.13290G>A (p.Pro4430=) rs200338374
NM_000445.4(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000445.4(PLEC):c.13483G>A (p.Ala4495Thr) rs112322162
NM_000445.4(PLEC):c.13530C>T (p.Ser4510=) rs782187551
NM_000445.4(PLEC):c.13560G>A (p.Ser4520=) rs781929758
NM_000445.4(PLEC):c.13590C>T (p.Arg4530=) rs190789703
NM_000445.4(PLEC):c.13717G>A (p.Val4573Met) rs573424409
NM_000445.4(PLEC):c.13722C>G (p.Ala4574=) rs782535880
NM_000445.4(PLEC):c.1386G>A (p.Ala462=) rs369877618
NM_000445.4(PLEC):c.1455C>T (p.Thr485=) rs115081018
NM_000445.4(PLEC):c.1587G>C (p.Gln529His) rs571497788
NM_000445.4(PLEC):c.1626C>T (p.Pro542=) rs199968254
NM_000445.4(PLEC):c.1710G>T (p.Glu570Asp) rs201164522
NM_000445.4(PLEC):c.1731C>T (p.Ser577=) rs541271992
NM_000445.4(PLEC):c.1749C>T (p.Gly583=) rs369796183
NM_000445.4(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.4(PLEC):c.1818+9C>T rs371976170
NM_000445.4(PLEC):c.1833C>T (p.Pro611=) rs185978075
NM_000445.4(PLEC):c.1897-7C>G rs201141391
NM_000445.4(PLEC):c.1905C>T (p.Ser635=) rs201927593
NM_000445.4(PLEC):c.1959T>A (p.Thr653=) rs377039110
NM_000445.4(PLEC):c.2036C>T (p.Thr679Ile) rs190470017
NM_000445.4(PLEC):c.2037C>T (p.Thr679=) rs201835507
NM_000445.4(PLEC):c.2050A>T (p.Ser684Cys) rs199843296
NM_000445.4(PLEC):c.2175G>A (p.Ala725=) rs373347166
NM_000445.4(PLEC):c.2244C>T (p.Asn748=) rs374712759
NM_000445.4(PLEC):c.2259+10G>A rs781817693
NM_000445.4(PLEC):c.2259+9C>G rs114256617
NM_000445.4(PLEC):c.2259+9C>T rs114256617
NM_000445.4(PLEC):c.2298G>A (p.Gln766=) rs116612406
NM_000445.4(PLEC):c.2318G>A (p.Arg773His) rs200887085
NM_000445.4(PLEC):c.2386-10delT rs142120912
NM_000445.4(PLEC):c.2539-7G>A rs372799330
NM_000445.4(PLEC):c.2539-8C>T rs201818691
NM_000445.4(PLEC):c.255+10delG rs528031000
NM_000445.4(PLEC):c.2558A>G (p.Asp853Gly) rs369344419
NM_000445.4(PLEC):c.2589G>A (p.Pro863=) rs116385960
NM_000445.4(PLEC):c.2629G>A (p.Ala877Thr) rs58836306
NM_000445.4(PLEC):c.2632G>A (p.Val878Met) rs200647397
NM_000445.4(PLEC):c.2694-7C>A rs11990994
NM_000445.4(PLEC):c.2739G>A (p.Leu913=) rs78012434
NM_000445.4(PLEC):c.2856C>T (p.Ala952=) rs201202488
NM_000445.4(PLEC):c.2866C>T (p.Leu956=) rs369676162
NM_000445.4(PLEC):c.2913C>T (p.Gly971=) rs145050858
NM_000445.4(PLEC):c.2925C>T (p.Pro975=) rs200482255
NM_000445.4(PLEC):c.3043G>C (p.Glu1015Gln) rs367627441
NM_000445.4(PLEC):c.3059G>A (p.Arg1020Gln) rs534045685
NM_000445.4(PLEC):c.3252G>A (p.Ser1084=) rs371271326
NM_000445.4(PLEC):c.3273C>T (p.Arg1091=) rs73377210
NM_000445.4(PLEC):c.3291G>A (p.Thr1097=) rs375699173
NM_000445.4(PLEC):c.3459G>A (p.Glu1153=) rs11991764
NM_000445.4(PLEC):c.3624C>T (p.Val1208=) rs202185399
NM_000445.4(PLEC):c.3669C>T (p.Asp1223=) rs377059744
NM_000445.4(PLEC):c.3768G>T (p.Arg1256=) rs782037394
NM_000445.4(PLEC):c.3792G>T (p.Pro1264=) rs572124553
NM_000445.4(PLEC):c.3798C>T (p.Ala1266=) rs112173070
NM_000445.4(PLEC):c.3812T>G (p.Val1271Gly) rs187648086
NM_000445.4(PLEC):c.3826C>A (p.Arg1276=) rs201552166
NM_000445.4(PLEC):c.3838-9A>G rs57461687
NM_000445.4(PLEC):c.3859C>G (p.Arg1287Gly) rs151022876
NM_000445.4(PLEC):c.3861C>T (p.Arg1287=) rs201737115
NM_000445.4(PLEC):c.3954G>A (p.Ala1318=) rs374669316
NM_000445.4(PLEC):c.3966G>A (p.Pro1322=) rs148465219
NM_000445.4(PLEC):c.4039C>T (p.Arg1347Cys) rs372256096
NM_000445.4(PLEC):c.4182C>T (p.Ala1394=) rs376065732
NM_000445.4(PLEC):c.4302G>A (p.Ala1434=) rs185790521
NM_000445.4(PLEC):c.4304C>T (p.Ala1435Val) rs111851716
NM_000445.4(PLEC):c.4314G>A (p.Ala1438=) rs2855760
NM_000445.4(PLEC):c.4407G>A (p.Ala1469=) rs369943756
NM_000445.4(PLEC):c.4473C>T (p.Thr1491=) rs372029672
NM_000445.4(PLEC):c.4491G>A (p.Gly1497=) rs782222671
NM_000445.4(PLEC):c.459T>G (p.Ala153=) rs6993938
NM_000445.4(PLEC):c.4605G>A (p.Gln1535=) rs370168097
NM_000445.4(PLEC):c.4637C>T (p.Ser1546Leu) rs182120395
NM_000445.4(PLEC):c.4638G>A (p.Ser1546=) rs79705634
NM_000445.4(PLEC):c.4641C>T (p.Arg1547=) rs782412831
NM_000445.4(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.4(PLEC):c.4716G>A (p.Ala1572=) rs76426116
NM_000445.4(PLEC):c.4725G>A (p.Ala1575=) rs62642470
NM_000445.4(PLEC):c.4809G>A (p.Ala1603=) rs545266312
NM_000445.4(PLEC):c.4839C>G (p.Ala1613=) rs782073897
NM_000445.4(PLEC):c.4881C>T (p.His1627=) rs149044728
NM_000445.4(PLEC):c.4935C>T (p.Ala1645=) rs7011480
NM_000445.4(PLEC):c.4954G>A (p.Glu1652Lys) rs187338487
NM_000445.4(PLEC):c.5105G>A (p.Arg1702Gln) rs370569372
NM_000445.4(PLEC):c.5109C>T (p.Arg1703=) rs200727084
NM_000445.4(PLEC):c.5163G>A (p.Leu1721=) rs182961574
NM_000445.4(PLEC):c.5163G>C (p.Leu1721=) rs182961574
NM_000445.4(PLEC):c.5246C>T (p.Thr1749Met) rs377665141
NM_000445.4(PLEC):c.5308G>A (p.Ala1770Thr) rs781946435
NM_000445.4(PLEC):c.5310G>A (p.Ala1770=) rs140406501
NM_000445.4(PLEC):c.5385G>A (p.Leu1795=) rs186670912
NM_000445.4(PLEC):c.5472C>T (p.Arg1824=) rs551187778
NM_000445.4(PLEC):c.5550C>T (p.Asp1850=) rs771101893
NM_000445.4(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.4(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.4(PLEC):c.5568C>T (p.Ala1856=) rs781998103
NM_000445.4(PLEC):c.5574G>A (p.Ala1858=) rs201218437
NM_000445.4(PLEC):c.5601C>T (p.Ala1867=) rs374790646
NM_000445.4(PLEC):c.5670C>T (p.Asn1890=) rs782678351
NM_000445.4(PLEC):c.5754C>T (p.Ile1918=) rs191863619
NM_000445.4(PLEC):c.5793C>T (p.Ser1931=) rs115735672
NM_000445.4(PLEC):c.5842C>T (p.Arg1948Trp) rs201278290
NM_000445.4(PLEC):c.5868G>A (p.Ala1956=) rs368886943
NM_000445.4(PLEC):c.5877G>A (p.Ala1959=) rs375568532
NM_000445.4(PLEC):c.5946G>A (p.Ala1982=) rs62642469
NM_000445.4(PLEC):c.5955G>A (p.Thr1985=) rs185082202
NM_000445.4(PLEC):c.6003G>C (p.Gln2001His) rs202190540
NM_000445.4(PLEC):c.6022C>T (p.Arg2008Trp) rs962321651
NM_000445.4(PLEC):c.6102G>A (p.Ala2034=) rs200338935
NM_000445.4(PLEC):c.6150C>G (p.Arg2050=) rs376365984
NM_000445.4(PLEC):c.6177G>C (p.Ser2059=) rs564245730
NM_000445.4(PLEC):c.621C>T (p.Cys207=) rs189256993
NM_000445.4(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.4(PLEC):c.6279G>T (p.Gln2093His) rs201574539
NM_000445.4(PLEC):c.6303C>T (p.Ser2101=) rs370347438
NM_000445.4(PLEC):c.6321C>T (p.Arg2107=) rs576688705
NM_000445.4(PLEC):c.6329C>T (p.Ala2110Val) rs781878105
NM_000445.4(PLEC):c.6330G>A (p.Ala2110=) rs377026986
NM_000445.4(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.4(PLEC):c.6384G>A (p.Glu2128=) rs781833947
NM_000445.4(PLEC):c.6394_6395delGCinsAT (p.Ala2132Met) rs886044784
NM_000445.4(PLEC):c.6399G>A (p.Gln2133=) rs556328818
NM_000445.4(PLEC):c.6480G>A (p.Ala2160=) rs375489890
NM_000445.4(PLEC):c.6507C>T (p.Ala2169=) rs200062782
NM_000445.4(PLEC):c.6573C>T (p.Asp2191=) rs575031901
NM_000445.4(PLEC):c.6588G>A (p.Lys2196=) rs199866902
NM_000445.4(PLEC):c.6594G>A (p.Lys2198=) rs184102912
NM_000445.4(PLEC):c.6617G>A (p.Arg2206Gln) rs117962829
NM_000445.4(PLEC):c.6658C>T (p.Leu2220=) rs28610521
NM_000445.4(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.4(PLEC):c.6723G>A (p.Ala2241=) rs559736151
NM_000445.4(PLEC):c.6822C>T (p.Ile2274=) rs62641755
NM_000445.4(PLEC):c.6838G>A (p.Ala2280Thr) rs62641756
NM_000445.4(PLEC):c.6921C>T (p.Ala2307=) rs202182619
NM_000445.4(PLEC):c.6922G>A (p.Ala2308Thr) rs200618217
NM_000445.4(PLEC):c.7142C>T (p.Ala2381Val) rs370003608
NM_000445.4(PLEC):c.7143G>A (p.Ala2381=) rs375587611
NM_000445.4(PLEC):c.7179G>T (p.Arg2393=) rs79489944
NM_000445.4(PLEC):c.7182G>A (p.Thr2394=) rs202132558
NM_000445.4(PLEC):c.7191C>T (p.Ala2397=) rs80143277
NM_000445.4(PLEC):c.7341G>A (p.Thr2447=) rs34490562
NM_000445.4(PLEC):c.7347C>T (p.Leu2449=) rs117306121
NM_000445.4(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.4(PLEC):c.7450C>T (p.Arg2484Cys) rs200652637
NM_000445.4(PLEC):c.7522C>G (p.Gln2508Glu) rs782016209
NM_000445.4(PLEC):c.7545G>A (p.Thr2515=) rs560896222
NM_000445.4(PLEC):c.7587G>A (p.Leu2529=) rs187725817
NM_000445.4(PLEC):c.7767C>T (p.Ala2589=) rs534269714
NM_000445.4(PLEC):c.7807C>T (p.Leu2603=) rs11988293
NM_000445.4(PLEC):c.7834G>C (p.Glu2612Gln) rs200488179
NM_000445.4(PLEC):c.7902C>T (p.Ala2634=) rs398123402
NM_000445.4(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.4(PLEC):c.7961C>G (p.Pro2654Arg) rs184879368
NM_000445.4(PLEC):c.8032C>T (p.Arg2678Trp) rs145977158
NM_000445.4(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000445.4(PLEC):c.8121C>T (p.Asp2707=) rs373341589
NM_000445.4(PLEC):c.8127C>T (p.Leu2709=) rs375590561
NM_000445.4(PLEC):c.8131C>T (p.Arg2711Trp) rs35723243
NM_000445.4(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_000445.4(PLEC):c.8147G>A (p.Arg2716His) rs782161008
NM_000445.4(PLEC):c.8263A>G (p.Ile2755Val) rs200061415
NM_000445.4(PLEC):c.8397C>T (p.Arg2799=) rs782420340
NM_000445.4(PLEC):c.8400C>T (p.Ala2800=) rs34534853
NM_000445.4(PLEC):c.840C>T (p.Thr280=) rs377118309
NM_000445.4(PLEC):c.8523C>T (p.Gly2841=) rs186703073
NM_000445.4(PLEC):c.8526T>C (p.Val2842=) rs371421350
NM_000445.4(PLEC):c.8535C>T (p.Pro2845=) rs782419323
NM_000445.4(PLEC):c.853C>T (p.Leu285=) rs372233686
NM_000445.4(PLEC):c.8570A>G (p.Tyr2857Cys) rs199720608
NM_000445.4(PLEC):c.8587G>A (p.Asp2863Asn) rs200814155
NM_000445.4(PLEC):c.8613G>C (p.Ala2871=) rs782732824
NM_000445.4(PLEC):c.8706C>T (p.Pro2902=) rs183401234
NM_000445.4(PLEC):c.873C>T (p.Arg291=) rs782391508
NM_000445.4(PLEC):c.8823C>T (p.Phe2941=) rs201211875
NM_000445.4(PLEC):c.882C>T (p.Asp294=) rs202218097
NM_000445.4(PLEC):c.8880C>T (p.Phe2960=) rs371751910
NM_000445.4(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.4(PLEC):c.8926C>T (p.Arg2976Trp) rs202241157
NM_000445.4(PLEC):c.906C>T (p.Asn302=) rs113133985
NM_000445.4(PLEC):c.9081_9082delGCinsTT (p.Gln3028Ter) rs1554683108
NM_000445.4(PLEC):c.9115G>A (p.Glu3039Lys) rs200898220
NM_000445.4(PLEC):c.9152A>G (p.Asn3051Ser) rs535089650
NM_000445.4(PLEC):c.9154G>A (p.Val3052Ile) rs35027700
NM_000445.4(PLEC):c.9162G>A (p.Ala3054=) rs199758196
NM_000445.4(PLEC):c.9197G>A (p.Ser3066Asn) rs374776968
NM_000445.4(PLEC):c.935G>A (p.Arg312Gln) rs188076386
NM_000445.4(PLEC):c.9396C>T (p.Tyr3132=) rs886044818
NM_000445.4(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.4(PLEC):c.9432C>T (p.Phe3144=) rs200895343
NM_000445.4(PLEC):c.9504C>T (p.Gly3168=) rs61529674
NM_000445.4(PLEC):c.9516C>T (p.Asp3172=) rs60091617
NM_000445.4(PLEC):c.9556G>A (p.Ala3186Thr) rs201030020
NM_000445.4(PLEC):c.9639A>G (p.Thr3213=) rs201102719
NM_000445.4(PLEC):c.966G>A (p.Met322Ile) rs201041690
NM_000445.4(PLEC):c.9714G>A (p.Pro3238=) rs199870482
NM_000445.4(PLEC):c.978G>A (p.Thr326=) rs377035835
NM_000445.4(PLEC):c.9794C>T (p.Pro3265Leu) rs782085661
NM_000445.4(PLEC):c.9837G>A (p.Thr3279=) rs782717194
NM_000445.4(PLEC):c.9858T>A (p.Ser3286=) rs34644439
NM_000445.4(PLEC):c.9976C>T (p.Arg3326Trp) rs142805337

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