ClinVar Miner

List of variants in gene PLEC reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_201384.3(PLEC):c.1264-15G>A rs7003580 0.45916
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
NM_201384.3(PLEC):c.*10C>T rs1065837 0.30524
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_201384.3(PLEC):c.3261-13G>A rs11991798 0.08644
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_201384.3(PLEC):c.13248G>A (p.Thr4416=) rs115621402 0.00455
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val) rs372179538 0.00011
NM_201384.3(PLEC):c.12558G>A (p.Ser4186=) rs370789200 0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00006
NM_201384.3(PLEC):c.8475C>T (p.Pro2825=) rs374602421 0.00006
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys) rs200620255 0.00004
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys) rs371749261 0.00002
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.8948C>T (p.Ala2983Val) rs1017632168

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