ClinVar Miner

List of variants in gene PLEC reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_000445.5(PLEC):c.*10C>T rs1065837
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.10095C>T (p.Val3365=) rs35775257
NM_000445.5(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.5(PLEC):c.10693T>C (p.Leu3565=) rs6992333
NM_000445.5(PLEC):c.10746G>A (p.Thr3582=) rs6984820
NM_000445.5(PLEC):c.11001C>T (p.Tyr3667=) rs28455570
NM_000445.5(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.5(PLEC):c.11208T>C (p.Ala3736=) rs7819099
NM_000445.5(PLEC):c.11682C>T (p.Asp3894=) rs75833626
NM_000445.5(PLEC):c.11709A>G (p.Pro3903=) rs7822511
NM_000445.5(PLEC):c.1176T>C (p.Asp392=) rs11783799
NM_000445.5(PLEC):c.11967A>G (p.Thr3989=) rs6558406
NM_000445.5(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.5(PLEC):c.12639G>A (p.Ser4213=) rs370789200
NM_000445.5(PLEC):c.12642C>T (p.Asp4214=) rs11998271
NM_000445.5(PLEC):c.12894A>G (p.Ser4298=) rs6558405
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.1345-15G>A rs7003580
NM_000445.5(PLEC):c.13542T>C (p.Ala4514=) rs7014582
NM_000445.5(PLEC):c.1592C>T (p.Ala531Val) rs11136336
NM_000445.5(PLEC):c.1757G>A (p.Arg586Gln) rs376555091
NM_000445.5(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.5(PLEC):c.1896+13A>G rs10866916
NM_000445.5(PLEC):c.2298G>A (p.Gln766=) rs116612406
NM_000445.5(PLEC):c.2385+9dup rs35671527
NM_000445.5(PLEC):c.2538+6C>T rs11780911
NM_000445.5(PLEC):c.2694-7C>A rs11990994
NM_000445.5(PLEC):c.3342-13G>A rs11991798
NM_000445.5(PLEC):c.3459G>A (p.Glu1153=) rs11991764
NM_000445.5(PLEC):c.3631T>C (p.Leu1211=) rs3135109
NM_000445.5(PLEC):c.3827G>A (p.Arg1276Gln) rs11136334
NM_000445.5(PLEC):c.3838-6A>G rs11136333
NM_000445.5(PLEC):c.4046A>G (p.His1349Arg) rs55895668
NM_000445.5(PLEC):c.4126-4A>G rs7002152
NM_000445.5(PLEC):c.423+13G>A rs115664009
NM_000445.5(PLEC):c.4494T>C (p.Ala1498=) rs35916068
NM_000445.5(PLEC):c.4536T>G (p.Ala1512=) rs56117011
NM_000445.5(PLEC):c.4557G>A (p.Ala1519=) rs55646585
NM_000445.5(PLEC):c.459T>C (p.Ala153=) rs6993938
NM_000445.5(PLEC):c.4638G>A (p.Ser1546=) rs79705634
NM_000445.5(PLEC):c.4761G>A (p.Ala1587=) rs55836855
NM_000445.5(PLEC):c.5310G>A (p.Ala1770=) rs140406501
NM_000445.5(PLEC):c.5664G>A (p.Ala1888=) rs75586449
NM_000445.5(PLEC):c.5906C>T (p.Ala1969Val) rs372179538
NM_000445.5(PLEC):c.5946G>A (p.Ala1982=) rs62642469
NM_000445.5(PLEC):c.5988T>C (p.Ala1996=) rs2857829
NM_000445.5(PLEC):c.6009G>A (p.Ala2003=) rs1140522
NM_000445.5(PLEC):c.6150C>G (p.Arg2050=) rs376365984
NM_000445.5(PLEC):c.6251C>T (p.Ala2084Val) rs7002002
NM_000445.5(PLEC):c.6395C>T (p.Ala2132Val) rs74772299
NM_000445.5(PLEC):c.6522G>A (p.Ala2174=) rs7016416
NM_000445.5(PLEC):c.6658C>T (p.Leu2220=) rs28610521
NM_000445.5(PLEC):c.6748C>T (p.Arg2250Cys) rs200620255
NM_000445.5(PLEC):c.6871C>T (p.Arg2291Cys) rs371749261
NM_000445.5(PLEC):c.7662A>C (p.Ala2554=) rs11778026
NM_000445.5(PLEC):c.7807C>T (p.Leu2603=) rs11988293
NM_000445.5(PLEC):c.7959G>A (p.Leu2653=) rs34803322
NM_000445.5(PLEC):c.799+10C>T rs12545876
NM_000445.5(PLEC):c.8041T>C (p.Ser2681Pro) rs7833924
NM_000445.5(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000445.5(PLEC):c.8106C>T (p.Gly2702=) rs35139934
NM_000445.5(PLEC):c.8334C>T (p.Asn2778=) rs11777402
NM_000445.5(PLEC):c.8400C>T (p.Ala2800=) rs34534853
NM_000445.5(PLEC):c.8556C>T (p.Pro2852=) rs374602421
NM_000445.5(PLEC):c.8576G>A (p.Arg2859His) rs6558407
NM_000445.5(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.5(PLEC):c.9029C>T (p.Ala3010Val) rs1017632168
NM_000445.5(PLEC):c.9182C>T (p.Ala3061Val) rs35858667
NM_000445.5(PLEC):c.9504C>T (p.Gly3168=) rs61529674

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