ClinVar Miner

List of variants in gene PLEC reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) rs200239963 0.00153
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) rs200488179 0.00116
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_201384.3(PLEC):c.9926G>A (p.Arg3309His) rs201369301 0.00093
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) rs201569045 0.00054
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00042
NM_201384.3(PLEC):c.3208A>G (p.Thr1070Ala) rs185859960 0.00038
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00037
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val) rs782278608 0.00036
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00033
NM_201378.4(PLEC):c.71-11768C>T rs200878086 0.00028
NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) rs782666455 0.00028
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) rs201030020 0.00026
NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys) rs202172091 0.00025
NM_201384.3(PLEC):c.9652C>T (p.Arg3218Trp) rs368758264 0.00025
NM_201384.3(PLEC):c.5732G>A (p.Gly1911Glu) rs377030479 0.00023
NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys) rs200034893 0.00021
NM_201384.3(PLEC):c.11818G>A (p.Val3940Met) rs534537112 0.00020
NM_201384.3(PLEC):c.9580G>A (p.Glu3194Lys) rs529809254 0.00019
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.8497G>A (p.Gly2833Ser) rs782099953 0.00018
NM_201378.4(PLEC):c.71-11719G>A rs202165668 0.00016
NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) rs201465091 0.00016
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala) rs370431965 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.6243C>T (p.Gly2081=) rs782746363 0.00015
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) rs199651668 0.00014
NM_201384.3(PLEC):c.10000G>A (p.Gly3334Ser) rs202003084 0.00013
NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu) rs574054664 0.00013
NM_201384.3(PLEC):c.8033C>T (p.Thr2678Met) rs201093335 0.00013
NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) rs201455467 0.00013
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His) rs151106439 0.00011
NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser) rs782650176 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val) rs375178454 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.11020C>T (p.Arg3674Cys) rs557562267 0.00010
NM_201384.3(PLEC):c.12863C>T (p.Thr4288Met) rs782574559 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_201384.3(PLEC):c.6842C>T (p.Ala2281Val) rs371130595 0.00010
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys) rs200653006 0.00009
NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys) rs782194334 0.00009
NM_201384.3(PLEC):c.113-6C>T rs782235036 0.00009
NM_201384.3(PLEC):c.3863C>T (p.Thr1288Met) rs372055596 0.00009
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp) rs782410213 0.00009
NM_201384.3(PLEC):c.5414G>A (p.Arg1805His) rs782438887 0.00009
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00009
NM_201384.3(PLEC):c.8545G>A (p.Asp2849Asn) rs200360391 0.00009
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00009
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys) rs541323979 0.00007
NM_201384.3(PLEC):c.13469G>A (p.Arg4490His) rs782151802 0.00006
NM_201384.3(PLEC):c.4363C>T (p.Arg1455Cys) rs782436596 0.00006
NM_201384.3(PLEC):c.5092C>T (p.Arg1698Trp) rs201386659 0.00006
NM_201384.3(PLEC):c.6701G>A (p.Arg2234His) rs369374252 0.00006
NM_201384.3(PLEC):c.7672C>T (p.Arg2558Trp) rs961518883 0.00006
NM_201384.3(PLEC):c.7829C>T (p.Ala2610Val) rs782085255 0.00006
NM_201384.3(PLEC):c.9815G>A (p.Arg3272His) rs571590501 0.00006
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu) rs200407723 0.00006
NM_201384.3(PLEC):c.10049T>C (p.Leu3350Pro) rs186417404 0.00005
NM_201384.3(PLEC):c.10615C>T (p.Arg3539Cys) rs201438739 0.00005
NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp) rs567331060 0.00005
NM_201384.3(PLEC):c.9724C>T (p.Pro3242Ser) rs782376110 0.00005
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536 0.00004
NM_201378.4(PLEC):c.71-5086G>A rs372851346 0.00004
NM_201384.3(PLEC):c.4475C>T (p.Ala1492Val) rs782685705 0.00004
NM_201384.3(PLEC):c.6914G>A (p.Arg2305Gln) rs532388907 0.00004
NM_201384.3(PLEC):c.7393G>A (p.Glu2465Lys) rs782413821 0.00004
NM_201384.3(PLEC):c.7738C>T (p.Arg2580Trp) rs531396914 0.00004
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln) rs200176579 0.00004
NM_201384.3(PLEC):c.9394C>T (p.Arg3132Cys) rs370266957 0.00004
NM_201378.4(PLEC):c.71-5101C>T rs782610872 0.00003
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser) rs782123116 0.00003
NM_201384.3(PLEC):c.3619C>T (p.Arg1207Cys) rs782816670 0.00003
NM_201384.3(PLEC):c.6074G>A (p.Arg2025Gln) rs546512137 0.00003
NM_201384.3(PLEC):c.797C>T (p.Pro266Leu) rs782324328 0.00003
NM_201384.3(PLEC):c.8620G>T (p.Asp2874Tyr) rs369356119 0.00003
NM_201384.3(PLEC):c.9755C>T (p.Thr3252Met) rs781828296 0.00003
NM_201378.4(PLEC):c.71-11534C>T rs375696082 0.00002
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) rs542488020 0.00002
NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe) rs782074353 0.00002
NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser) rs782789434 0.00002
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) rs377125427 0.00002
NM_201384.3(PLEC):c.5594G>A (p.Arg1865His) rs569571032 0.00002
NM_201384.3(PLEC):c.6875G>A (p.Arg2292Gln) rs782779625 0.00002
NM_201384.3(PLEC):c.718+5G>A rs369126676 0.00002
NM_201384.3(PLEC):c.7240G>A (p.Gly2414Ser) rs782229968 0.00002
NM_201384.3(PLEC):c.8542G>A (p.Asp2848Asn) rs781793289 0.00002
NM_201384.3(PLEC):c.9823C>T (p.Arg3275Cys) rs782733657 0.00002
NM_000445.5(PLEC):c.158T>C (p.Leu53Pro) rs781861668 0.00001
NM_201384.3(PLEC):c.1086C>G (p.His362Gln) rs1221901115 0.00001
NM_201384.3(PLEC):c.12026G>A (p.Arg4009His) rs564907731 0.00001
NM_201384.3(PLEC):c.12747G>A (p.Ser4249=) rs782377686 0.00001
NM_201384.3(PLEC):c.2035G>A (p.Gly679Arg) rs1554716477 0.00001
NM_201384.3(PLEC):c.2127G>C (p.Gln709His) rs1303759485 0.00001
NM_201384.3(PLEC):c.2843C>G (p.Pro948Arg) rs537345370 0.00001
NM_201384.3(PLEC):c.3081+9C>T rs371983298 0.00001
NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu) rs782567448 0.00001
NM_201384.3(PLEC):c.3638G>A (p.Arg1213His) rs782011338 0.00001
NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg) rs782377096 0.00001
NM_201384.3(PLEC):c.4346G>A (p.Arg1449His) rs561225406 0.00001
NM_201384.3(PLEC):c.4657C>T (p.Arg1553Trp) rs781820448 0.00001
NM_201384.3(PLEC):c.4717A>G (p.Ser1573Gly) rs1212000414 0.00001
NM_201384.3(PLEC):c.5020C>T (p.Arg1674Trp) rs782306391 0.00001
NM_201384.3(PLEC):c.5131G>A (p.Ala1711Thr) rs781937167 0.00001
NM_201384.3(PLEC):c.5410G>A (p.Ala1804Thr) rs984387491 0.00001
NM_201384.3(PLEC):c.5741A>G (p.Glu1914Gly) rs782280540 0.00001
NM_201384.3(PLEC):c.5938G>A (p.Glu1980Lys) rs782334814 0.00001
NM_201384.3(PLEC):c.6415C>T (p.Arg2139Cys) rs782717631 0.00001
NM_201384.3(PLEC):c.6530C>T (p.Thr2177Met) rs1312954051 0.00001
NM_201384.3(PLEC):c.6754C>T (p.Arg2252Cys) rs782530517 0.00001
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln) rs782316711 0.00001
NM_201384.3(PLEC):c.8626G>A (p.Glu2876Lys) rs782517831 0.00001
NM_201384.3(PLEC):c.8639G>A (p.Cys2880Tyr) rs782789906 0.00001
NM_201384.3(PLEC):c.9301G>A (p.Ala3101Thr) rs1554682090 0.00001
NM_201384.3(PLEC):c.9919G>A (p.Gly3307Ser) rs782021653 0.00001
NM_000445.5(PLEC):c.128G>T (p.Gly43Val) rs781980239
NM_201378.4(PLEC):c.71-11623C>T rs560175252
NM_201378.4(PLEC):c.71-11926A>T
NM_201378.4(PLEC):c.71-11933A>C
NM_201378.4(PLEC):c.71-5976C>T rs782207101
NM_201384.3(PLEC):c.10039G>A (p.Val3347Met) rs782748769
NM_201384.3(PLEC):c.10469A>G (p.Gln3490Arg)
NM_201384.3(PLEC):c.11364G>A (p.Lys3788=) rs782618512
NM_201384.3(PLEC):c.13208C>T (p.Pro4403Leu) rs781860439
NM_201384.3(PLEC):c.13356C>T (p.Arg4452=)
NM_201384.3(PLEC):c.1349G>A (p.Arg450Gln)
NM_201384.3(PLEC):c.1418+5G>T
NM_201384.3(PLEC):c.1454G>T (p.Arg485Leu) rs200328762
NM_201384.3(PLEC):c.1738-9C>T
NM_201384.3(PLEC):c.176C>T (p.Ala59Val) rs530919504
NM_201384.3(PLEC):c.1834C>A (p.Leu612Ile)
NM_201384.3(PLEC):c.2269_2274dup (p.Val757_Thr758dup) rs1827261502
NM_201384.3(PLEC):c.2847G>A (p.Glu949=) rs1169421274
NM_201384.3(PLEC):c.2852G>C (p.Arg951Pro) rs782775290
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup) rs782308502
NM_201384.3(PLEC):c.3105G>T (p.Gly1035=)
NM_201384.3(PLEC):c.3442G>T (p.Ala1148Ser) rs370869846
NM_201384.3(PLEC):c.3595C>G (p.Gln1199Glu) rs1564083000
NM_201384.3(PLEC):c.3778C>T (p.Arg1260Cys) rs151022876
NM_201384.3(PLEC):c.4146_4157del (p.Lys1383_Ala1386del)
NM_201384.3(PLEC):c.4169C>T (p.Ala1390Val) rs781873089
NM_201384.3(PLEC):c.4286C>T (p.Ser1429Leu)
NM_201384.3(PLEC):c.4576G>A (p.Glu1526Lys)
NM_201384.3(PLEC):c.6169_6170delinsAT (p.Ala2057Met) rs1564026689
NM_201384.3(PLEC):c.6658G>A (p.Ala2220Thr)
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7513C>T (p.Arg2505Trp) rs782284017
NM_201384.3(PLEC):c.7540G>A (p.Ala2514Thr) rs1304886778
NM_201384.3(PLEC):c.7652G>A (p.Ser2551Asn) rs782184912
NM_201384.3(PLEC):c.7717C>A (p.Leu2573Met) rs1564000724
NM_201384.3(PLEC):c.8820C>T (p.Asp2940=) rs58308209
NM_201384.3(PLEC):c.8873TCA[2] (p.Ile2960del) rs1586830080
NM_201384.3(PLEC):c.9120C>T (p.Ile3040=)
NM_201384.3(PLEC):c.9409C>G (p.Gln3137Glu) rs1822186323
NM_201384.3(PLEC):c.9490G>C (p.Asp3164His) rs782682146

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