ClinVar Miner

List of variants in gene PLEC reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP
NM_000445.5(PLEC):c.5110G>A (p.Gly1704Ser) rs373952777
NM_000445.5(PLEC):c.5136del (p.Gln1713fs) rs1064797350
NM_000445.5(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.5(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_201378.4(PLEC):c.10063G>T (p.Val3355Leu) rs201373953
NM_201378.4(PLEC):c.10088G>A (p.Arg3363Gln) rs375724891
NM_201378.4(PLEC):c.10116G>A (p.Ala3372=) rs373820763
NM_201378.4(PLEC):c.10523C>T (p.Thr3508Met) rs375095764
NM_201378.4(PLEC):c.10574G>A (p.Arg3525His) rs201235310
NM_201378.4(PLEC):c.10637A>G (p.Glu3546Gly) rs1554677246
NM_201378.4(PLEC):c.10717C>T (p.Leu3573=) rs200006106
NM_201378.4(PLEC):c.11165C>T (p.Pro3722Leu) rs77146441
NM_201378.4(PLEC):c.11203C>T (p.Arg3735Trp) rs782492178
NM_201378.4(PLEC):c.11287G>A (p.Glu3763Lys) rs538589589
NM_201378.4(PLEC):c.11591C>T (p.Ser3864Leu) rs782567022
NM_201378.4(PLEC):c.11952C>T (p.Pro3984=) rs113137721
NM_201378.4(PLEC):c.1203C>G (p.Ala401=) rs782527499
NM_201378.4(PLEC):c.12201C>T (p.Thr4067=) rs185022156
NM_201378.4(PLEC):c.12202G>A (p.Asp4068Asn) rs201221940
NM_201378.4(PLEC):c.12621G>C (p.Gln4207His) rs782601590
NM_201378.4(PLEC):c.12739G>A (p.Ala4247Thr) rs200924154
NM_201378.4(PLEC):c.12865G>A (p.Val4289Met) rs200668859
NM_201378.4(PLEC):c.12899C>T (p.Ala4300Val) rs1057519154
NM_201378.4(PLEC):c.12943C>T (p.Arg4315Cys) rs375593618
NM_201378.4(PLEC):c.13107C>T (p.Ala4369=) rs199719299
NM_201378.4(PLEC):c.13167G>A (p.Pro4389=) rs200338374
NM_201378.4(PLEC):c.13437G>A (p.Ser4479=) rs781929758
NM_201378.4(PLEC):c.1663C>T (p.Arg555Trp) rs532321410
NM_201378.4(PLEC):c.2052G>A (p.Ala684=) rs373347166
NM_201378.4(PLEC):c.2072G>A (p.Ser691Asn) rs1587069275
NM_201378.4(PLEC):c.2195G>A (p.Arg732His) rs200887085
NM_201378.4(PLEC):c.2436C>T (p.Asp812=) rs202135215
NM_201378.4(PLEC):c.2500G>A (p.Glu834Lys) rs781977174
NM_201378.4(PLEC):c.2733C>T (p.Ala911=) rs201202488
NM_201378.4(PLEC):c.2784C>T (p.Asp928=) rs782158467
NM_201378.4(PLEC):c.3003G>A (p.Pro1001=) rs368477108
NM_201378.4(PLEC):c.3082C>T (p.Arg1028Trp) rs367740468
NM_201378.4(PLEC):c.3129G>A (p.Ser1043=) rs371271326
NM_201378.4(PLEC):c.3144G>A (p.Thr1048=) rs782437578
NM_201378.4(PLEC):c.3251C>T (p.Thr1084Met) rs377368835
NM_201378.4(PLEC):c.3501C>T (p.Val1167=) rs202185399
NM_201378.4(PLEC):c.3546C>T (p.Asp1182=) rs377059744
NM_201378.4(PLEC):c.3547G>A (p.Val1183Met) rs3134600
NM_201378.4(PLEC):c.3732C>T (p.Ile1244=) rs200582060
NM_201378.4(PLEC):c.3843G>A (p.Pro1281=) rs148465219
NM_201378.4(PLEC):c.3913C>T (p.Leu1305=) rs201416081
NM_201378.4(PLEC):c.3930C>T (p.Ser1310=) rs375565604
NM_201378.4(PLEC):c.3991G>A (p.Glu1331Lys)
NM_201378.4(PLEC):c.4034G>A (p.Arg1345His) rs574482100
NM_201378.4(PLEC):c.4168C>T (p.Arg1390Trp) rs782370378
NM_201378.4(PLEC):c.4178C>T (p.Ala1393Val) rs548430154
NM_201378.4(PLEC):c.4309G>A (p.Glu1437Lys) rs868906137
NM_201378.4(PLEC):c.4324G>A (p.Val1442Met) rs186848953
NM_201378.4(PLEC):c.4514C>T (p.Ser1505Leu) rs182120395
NM_201378.4(PLEC):c.4556G>A (p.Arg1519Gln) rs201430180
NM_201378.4(PLEC):c.4609C>T (p.Arg1537Cys) rs2857824
NM_201378.4(PLEC):c.4634G>A (p.Arg1545Gln) rs371895113
NM_201378.4(PLEC):c.4881G>A (p.Ala1627=) rs782278045
NM_201378.4(PLEC):c.48G>T (p.Glu16Asp) rs781812480
NM_201378.4(PLEC):c.4938C>T (p.Ala1646=) rs199612329
NM_201378.4(PLEC):c.4981C>T (p.Arg1661Trp) rs567331060
NM_201378.4(PLEC):c.5011del (p.Arg1671fs) rs1057519155
NM_201378.4(PLEC):c.5185G>A (p.Ala1729Thr) rs781946435
NM_201378.4(PLEC):c.5262G>A (p.Leu1754=) rs186670912
NM_201378.4(PLEC):c.5289G>C (p.Glu1763Asp) rs774270631
NM_201378.4(PLEC):c.5445C>T (p.Ala1815=) rs781998103
NM_201378.4(PLEC):c.5591G>A (p.Arg1864Gln) rs373617951
NM_201378.4(PLEC):c.5719C>T (p.Arg1907Trp) rs201278290
NM_201378.4(PLEC):c.5813G>A (p.Arg1938His)
NM_201378.4(PLEC):c.6053C>T (p.Ser2018Leu) rs782658240
NM_201378.4(PLEC):c.6162G>A (p.Thr2054=) rs979599396
NM_201378.4(PLEC):c.6317C>T (p.Ser2106Leu) rs782430297
NM_201378.4(PLEC):c.6374G>A (p.Arg2125His) rs372652727
NM_201378.4(PLEC):c.6384C>T (p.Ala2128=) rs200062782
NM_201378.4(PLEC):c.6396G>A (p.Ala2132=) rs374211586
NM_201378.4(PLEC):c.6451G>A (p.Ala2151Thr) rs371119003
NM_201378.4(PLEC):c.6552C>T (p.Thr2184=) rs144242254
NM_201378.4(PLEC):c.6615C>T (p.Ala2205=) rs762600030
NM_201378.4(PLEC):c.6827C>T (p.Ala2276Val) rs782118220
NM_201378.4(PLEC):c.693G>C (p.Gln231His) rs782586855
NM_201378.4(PLEC):c.7032G>A (p.Ala2344=) rs146381488
NM_201378.4(PLEC):c.71-11599T>C rs201910266
NM_201378.4(PLEC):c.71-11629G>A
NM_201378.4(PLEC):c.71-11710G>T rs200335928
NM_201378.4(PLEC):c.71-11889C>T rs201946562
NM_201378.4(PLEC):c.71-724C>T rs374419983
NM_201378.4(PLEC):c.7153G>A (p.Ala2385Thr) rs782779334
NM_201378.4(PLEC):c.7187C>T (p.Ala2396Val) rs543422533
NM_201378.4(PLEC):c.7225G>A (p.Ala2409Thr) rs193257576
NM_201378.4(PLEC):c.7328G>C (p.Arg2443Pro) rs199504105
NM_201378.4(PLEC):c.7345C>T (p.Gln2449Ter) rs1554689806
NM_201378.4(PLEC):c.749G>A (p.Arg250His) rs781893683
NM_201378.4(PLEC):c.7638T>A (p.His2546Gln) rs1554688497
NM_201378.4(PLEC):c.797G>A (p.Arg266His) rs782124459
NM_201378.4(PLEC):c.7988C>T (p.Thr2663Ile) rs781973277
NM_201378.4(PLEC):c.8185G>A (p.Val2729Met) rs781889659
NM_201378.4(PLEC):c.8220G>A (p.Val2740=) rs1392212781
NM_201378.4(PLEC):c.8302A>G (p.Thr2768Ala) rs782190805
NM_201378.4(PLEC):c.8361C>T (p.His2787=) rs373876233
NM_201378.4(PLEC):c.8464G>A (p.Asp2822Asn) rs200814155
NM_201378.4(PLEC):c.8467G>A (p.Glu2823Lys) rs199661077
NM_201378.4(PLEC):c.8655C>T (p.Ser2885=) rs200383203
NM_201378.4(PLEC):c.8992G>A (p.Glu2998Lys) rs200898220
NM_201378.4(PLEC):c.9039G>A (p.Ala3013=) rs199758196
NM_201378.4(PLEC):c.9437G>C (p.Arg3146Pro)
NM_201378.4(PLEC):c.960C>T (p.Ala320=) rs370574829
NM_201378.4(PLEC):c.9676G>A (p.Glu3226Lys) rs75857070
NM_201378.4(PLEC):c.974C>A (p.Ser325Tyr) rs1564147580
NM_201378.4(PLEC):c.9854G>A (p.Arg3285Gln) rs368318946
NM_201378.4(PLEC):c.9883C>T (p.Arg3295Cys) rs77303974
NM_201378.4(PLEC):c.9887C>T (p.Ala3296Val) rs183230983
NM_201378.4(PLEC):c.9919G>A (p.Gly3307Arg) rs34132016

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