ClinVar Miner

List of variants in gene PLEC reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp) rs200543521 0.00059
NM_201384.3(PLEC):c.10565C>T (p.Thr3522Met) rs375095764 0.00057
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) rs201569045 0.00054
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_201384.3(PLEC):c.634C>T (p.Arg212Trp) rs374195373 0.00036
NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser) rs202010719 0.00031
NM_201384.3(PLEC):c.4648C>T (p.Arg1550Trp) rs560918806 0.00031
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met) rs200715520 0.00027
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00026
NM_201384.3(PLEC):c.682C>T (p.Arg228Trp) rs200249446 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.9658C>T (p.Arg3220Trp) rs200643300 0.00024
NM_201384.3(PLEC):c.1613G>A (p.Arg538His) rs200864968 0.00021
NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) rs782581787 0.00019
NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) rs201465091 0.00016
NM_201384.3(PLEC):c.9529G>A (p.Asp3177Asn) rs151050583 0.00016
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala) rs370431965 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.6679G>A (p.Glu2227Lys) rs372884590 0.00015
NM_201384.3(PLEC):c.10936C>T (p.Arg3646Cys) rs202175941 0.00014
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) rs199651668 0.00014
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) rs368122904 0.00013
NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met) rs377252521 0.00012
NM_201384.3(PLEC):c.2410C>T (p.Arg804Trp) rs201194946 0.00012
NM_201384.3(PLEC):c.11587C>T (p.Arg3863Trp) rs2857818 0.00011
NM_201384.3(PLEC):c.3176C>T (p.Ala1059Val) rs529986115 0.00011
NM_201384.3(PLEC):c.4323G>C (p.Glu1441Asp) rs782706697 0.00011
NM_201384.3(PLEC):c.7730A>G (p.Glu2577Gly) rs549616678 0.00011
NM_201384.3(PLEC):c.10919A>G (p.Tyr3640Cys) rs1271519533 0.00010
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp) rs782544250 0.00010
NM_201384.3(PLEC):c.10303G>A (p.Gly3435Ser) rs375044211 0.00009
NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys) rs200653006 0.00009
NM_201384.3(PLEC):c.12208G>A (p.Gly4070Ser) rs201751379 0.00009
NM_201384.3(PLEC):c.3023G>A (p.Arg1008Gln) rs374666787 0.00009
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp) rs782410213 0.00009
NM_201384.3(PLEC):c.7939G>A (p.Asp2647Asn) rs782492323 0.00009
NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro) rs782636181 0.00008
NM_201384.3(PLEC):c.4786C>T (p.Leu1596=) rs782244301 0.00008
NM_201384.3(PLEC):c.13087C>T (p.Arg4363Cys) rs782348944 0.00007
NM_201384.3(PLEC):c.3527G>A (p.Arg1176His) rs782533009 0.00007
NM_201384.3(PLEC):c.6535C>T (p.Arg2179Trp) rs372371569 0.00007
NM_201384.3(PLEC):c.12382C>T (p.Arg4128Trp) rs375335998 0.00006
NM_201384.3(PLEC):c.4744C>T (p.Arg1582Cys) rs782517203 0.00006
NM_201384.3(PLEC):c.5092C>T (p.Arg1698Trp) rs201386659 0.00006
NM_201384.3(PLEC):c.6010C>T (p.Arg2004Trp) rs369813798 0.00006
NM_201384.3(PLEC):c.6067C>T (p.Arg2023Cys) rs782091586 0.00006
NM_201384.3(PLEC):c.7633C>T (p.Arg2545Trp) rs782164998 0.00006
NM_201384.3(PLEC):c.7672C>T (p.Arg2558Trp) rs961518883 0.00006
NM_201384.3(PLEC):c.7696G>A (p.Val2566Met) rs782743395 0.00006
NM_201384.3(PLEC):c.8239C>T (p.Arg2747Trp) rs375454561 0.00006
NM_201384.3(PLEC):c.9223C>T (p.Arg3075Trp) rs376638828 0.00006
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu) rs200407723 0.00006
NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys) rs782134827 0.00005
NM_201384.3(PLEC):c.2676C>G (p.Ser892Arg) rs782309376 0.00005
NM_201384.3(PLEC):c.10007C>T (p.Thr3336Met) rs199950917 0.00004
NM_201384.3(PLEC):c.10532G>A (p.Gly3511Asp) rs200972761 0.00004
NM_201384.3(PLEC):c.11275G>A (p.Asp3759Asn) rs781916673 0.00004
NM_201384.3(PLEC):c.1271G>A (p.Arg424Gln) rs199965040 0.00004
NM_201384.3(PLEC):c.12731G>A (p.Arg4244His) rs370769102 0.00004
NM_201384.3(PLEC):c.13480C>T (p.Arg4494Cys) rs782402134 0.00004
NM_201384.3(PLEC):c.3190C>T (p.Arg1064Cys) rs371358671 0.00004
NM_201384.3(PLEC):c.337C>T (p.Arg113Cys) rs370564188 0.00004
NM_201384.3(PLEC):c.4720G>A (p.Ala1574Thr) rs914835478 0.00004
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val) rs782360547 0.00004
NM_201384.3(PLEC):c.6968C>T (p.Thr2323Met) rs550065687 0.00004
NM_201384.3(PLEC):c.9187G>A (p.Gly3063Ser) rs782820081 0.00004
NM_201384.3(PLEC):c.10270G>A (p.Glu3424Lys) rs371846683 0.00003
NM_201384.3(PLEC):c.12025C>T (p.Arg4009Cys) rs989279969 0.00003
NM_201384.3(PLEC):c.12958G>A (p.Gly4320Ser) rs1393023116 0.00003
NM_201384.3(PLEC):c.13126A>G (p.Lys4376Glu) rs782467077 0.00003
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser) rs373807877 0.00003
NM_201384.3(PLEC):c.2828C>T (p.Ala943Val) rs373846942 0.00003
NM_201384.3(PLEC):c.6004C>T (p.Arg2002Trp) rs782502722 0.00003
NM_201384.3(PLEC):c.7213C>T (p.Arg2405Cys) rs782579294 0.00003
NM_201384.3(PLEC):c.8750T>G (p.Phe2917Cys) rs782357952 0.00003
NM_201384.3(PLEC):c.8815C>T (p.Arg2939Trp) rs782575301 0.00003
NM_201384.3(PLEC):c.9616G>A (p.Gly3206Arg) rs782594100 0.00003
NM_201384.3(PLEC):c.10474G>A (p.Gly3492Ser) rs544332992 0.00002
NM_201384.3(PLEC):c.10831G>A (p.Gly3611Ser) rs201595670 0.00002
NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser) rs782789434 0.00002
NM_201384.3(PLEC):c.13276C>T (p.Arg4426Cys) rs782043444 0.00002
NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser) rs782419427 0.00002
NM_201384.3(PLEC):c.1461G>A (p.Glu487=) rs782426400 0.00002
NM_201384.3(PLEC):c.2078T>G (p.Val693Gly) rs1413877742 0.00002
NM_201384.3(PLEC):c.2093C>T (p.Ala698Val) rs1373860165 0.00002
NM_201384.3(PLEC):c.2389C>T (p.Arg797Cys) rs781813443 0.00002
NM_201384.3(PLEC):c.3628C>T (p.Arg1210Cys) rs782365536 0.00002
NM_201384.3(PLEC):c.4325C>T (p.Ala1442Val) rs782058696 0.00002
NM_201384.3(PLEC):c.4339C>T (p.Arg1447Trp) rs782057352 0.00002
NM_201384.3(PLEC):c.7345C>T (p.Arg2449Trp) rs571406033 0.00002
NM_201384.3(PLEC):c.8467C>T (p.Arg2823Cys) rs370334846 0.00002
NM_201384.3(PLEC):c.9823C>T (p.Arg3275Cys) rs782733657 0.00002
NM_201384.3(PLEC):c.10387C>T (p.Arg3463Cys) rs782515444 0.00001
NM_201384.3(PLEC):c.10801C>T (p.Arg3601Trp) rs782412400 0.00001
NM_201384.3(PLEC):c.10870G>A (p.Glu3624Lys) rs554393133 0.00001
NM_201384.3(PLEC):c.11221C>T (p.Arg3741Trp) rs782510033 0.00001
NM_201384.3(PLEC):c.11957C>T (p.Thr3986Met) rs369056956 0.00001
NM_201384.3(PLEC):c.12282C>T (p.Asn4094=) rs536268706 0.00001
NM_201384.3(PLEC):c.12977C>A (p.Thr4326Asn) rs1272806541 0.00001
NM_201384.3(PLEC):c.1361A>G (p.Asn454Ser) rs781981346 0.00001
NM_201384.3(PLEC):c.1979C>T (p.Ala660Val) rs782079821 0.00001
NM_201384.3(PLEC):c.2374G>A (p.Val792Met) rs782238465 0.00001
NM_201384.3(PLEC):c.2613-12C>G rs782387123 0.00001
NM_201384.3(PLEC):c.3491A>G (p.Gln1164Arg) rs782101451 0.00001
NM_201384.3(PLEC):c.3637C>T (p.Arg1213Cys) rs1369858558 0.00001
NM_201384.3(PLEC):c.3842A>G (p.Asp1281Gly) rs782382295 0.00001
NM_201384.3(PLEC):c.5012G>A (p.Arg1671His) rs782081177 0.00001
NM_201384.3(PLEC):c.5020C>T (p.Arg1674Trp) rs782306391 0.00001
NM_201384.3(PLEC):c.7334C>T (p.Ala2445Val) rs1020001131 0.00001
NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr) rs529109624 0.00001
NM_201384.3(PLEC):c.838C>T (p.Arg280Cys) rs372997489 0.00001
NM_201384.3(PLEC):c.8494C>T (p.Arg2832Cys) rs782165745 0.00001
NM_201384.3(PLEC):c.8687A>G (p.Tyr2896Cys) rs375069554 0.00001
NM_201384.3(PLEC):c.8933G>A (p.Arg2978His) rs202227756 0.00001
NM_000445.5(PLEC):c.128G>T (p.Gly43Val) rs781980239
NM_201378.4(PLEC):c.71-11919del rs782397123
NM_201384.3(PLEC):c.10039G>A (p.Val3347Met) rs782748769
NM_201384.3(PLEC):c.10216C>G (p.Arg3406Gly) rs781882032
NM_201384.3(PLEC):c.10529A>C (p.Lys3510Thr) rs2130982519
NM_201384.3(PLEC):c.10824C>G (p.Phe3608Leu)
NM_201384.3(PLEC):c.10852A>C (p.Met3618Leu) rs376442504
NM_201384.3(PLEC):c.11000G>T (p.Arg3667Leu) rs369798520
NM_201384.3(PLEC):c.11985T>G (p.Ile3995Met)
NM_201384.3(PLEC):c.12941C>T (p.Ala4314Val) rs1057519154
NM_201384.3(PLEC):c.13035G>A (p.Met4345Ile) rs2130811775
NM_201384.3(PLEC):c.1427G>A (p.Arg476His)
NM_201384.3(PLEC):c.1884G>T (p.Glu628Asp) rs782794399
NM_201384.3(PLEC):c.2006AGA[2] (p.Lys671del) rs782157103
NM_201384.3(PLEC):c.211C>T (p.Arg71Cys) rs781901742
NM_201384.3(PLEC):c.2560G>A (p.Val854Met) rs370464447
NM_201384.3(PLEC):c.3041A>G (p.Glu1014Gly) rs1554710940
NM_201384.3(PLEC):c.3298G>C (p.Gly1100Arg) rs201404741
NM_201384.3(PLEC):c.3964_3965inv (p.His1322Cys)
NM_201384.3(PLEC):c.4135C>T (p.His1379Tyr) rs1554704116
NM_201384.3(PLEC):c.4373G>T (p.Arg1458Leu) rs782720526
NM_201384.3(PLEC):c.4830_4859dup (p.Arg1613_Arg1622dup) rs1554700573
NM_201384.3(PLEC):c.5042A>G (p.Glu1681Gly)
NM_201384.3(PLEC):c.5329_5330inv (p.Glu1777Ser)
NM_201384.3(PLEC):c.584C>T (p.Ala195Val)
NM_201384.3(PLEC):c.6819G>A (p.Met2273Ile) rs1330572071
NM_201384.3(PLEC):c.7075GAG[1] (p.Glu2360del) rs782592923
NM_201384.3(PLEC):c.7537_7538delinsGC (p.Lys2513Ala) rs1554689196
NM_201384.3(PLEC):c.7606_7620del (p.Arg2536_Gln2540del) rs1554688820
NM_201384.3(PLEC):c.7925C>T (p.Pro2642Leu) rs782183501
NM_201384.3(PLEC):c.8279G>T (p.Gly2760Val) rs1554686155
NM_201384.3(PLEC):c.8345C>T (p.Thr2782Ile)
NM_201384.3(PLEC):c.8969_8971dup (p.Arg2990_Val2991insGly) rs782018185

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