ClinVar Miner

List of variants in gene PLEC reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070 0.00263
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=) rs374211586 0.00108
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329 0.00101
NM_201378.4(PLEC):c.71-11599T>C rs201910266 0.00096
NM_201384.3(PLEC):c.9926G>A (p.Arg3309His) rs201369301 0.00093
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00079
NM_201384.3(PLEC):c.10565C>T (p.Thr3522Met) rs375095764 0.00057
NM_201384.3(PLEC):c.13149C>T (p.Ala4383=) rs199719299 0.00057
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 0.00049
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00037
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) rs200668859 0.00027
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=) rs781998103 0.00027
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr) rs200924154 0.00026
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val) rs183230983 0.00021
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00019
NM_201384.3(PLEC):c.8227G>A (p.Val2743Met) rs781889659 0.00019
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_201384.3(PLEC):c.6493G>A (p.Ala2165Thr) rs371119003 0.00018
NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln) rs371895113 0.00016
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser) rs373952777 0.00016
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His) rs377610697 0.00016
NM_201384.3(PLEC):c.3293C>T (p.Thr1098Met) rs377368835 0.00014
NM_201384.3(PLEC):c.5674G>A (p.Glu1892Lys) rs201075382 0.00013
NM_201384.3(PLEC):c.8033C>T (p.Thr2678Met) rs201093335 0.00013
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) rs375724891 0.00012
NM_201384.3(PLEC):c.2094G>A (p.Ala698=) rs373347166 0.00012
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu) rs782569204 0.00011
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.6657C>T (p.Ala2219=) rs762600030 0.00010
NM_201384.3(PLEC):c.6830C>T (p.Ala2277Val) rs781888752 0.00010
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00009
NM_201384.3(PLEC):c.6523G>A (p.Glu2175Lys) rs375723079 0.00009
NM_201384.3(PLEC):c.11881G>A (p.Gly3961Ser) rs373243633 0.00008
NM_201384.3(PLEC):c.11393G>A (p.Arg3798Gln) rs781872730 0.00007
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys) rs375593618 0.00007
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) rs368318946 0.00007
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.2605G>A (p.Val869Ile) rs782050689 0.00006
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=) rs782437578 0.00006
NM_201384.3(PLEC):c.4923G>A (p.Ala1641=) rs782278045 0.00006
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp) rs774270631 0.00006
NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp) rs567331060 0.00005
NM_201384.3(PLEC):c.6869C>T (p.Ala2290Val) rs782118220 0.00005
NM_201384.3(PLEC):c.7229C>T (p.Ala2410Val) rs543422533 0.00005
NM_201384.3(PLEC):c.839G>A (p.Arg280His) rs782124459 0.00005
NM_201384.3(PLEC):c.13574C>T (p.Ser4525Leu) rs368507062 0.00004
NM_201384.3(PLEC):c.2542G>A (p.Glu848Lys) rs781977174 0.00004
NM_201384.3(PLEC):c.3045G>A (p.Pro1015=) rs368477108 0.00004
NM_201384.3(PLEC):c.3589G>A (p.Val1197Met) rs3134600 0.00004
NM_201384.3(PLEC):c.6204G>A (p.Thr2068=) rs979599396 0.00004
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln) rs369570610 0.00003
NM_201384.3(PLEC):c.11633C>T (p.Ser3878Leu) rs782567022 0.00003
NM_201384.3(PLEC):c.12703A>G (p.Met4235Val) rs782479828 0.00003
NM_201384.3(PLEC):c.1705C>T (p.Arg569Trp) rs532321410 0.00003
NM_201384.3(PLEC):c.3124C>T (p.Arg1042Trp) rs367740468 0.00003
NM_201384.3(PLEC):c.6359C>T (p.Ser2120Leu) rs782430297 0.00003
NM_201384.3(PLEC):c.791G>A (p.Arg264His) rs781893683 0.00003
NM_201384.3(PLEC):c.8521C>T (p.Arg2841Cys) rs539060494 0.00003
NM_201384.3(PLEC):c.11245C>T (p.Arg3749Trp) rs782492178 0.00002
NM_201384.3(PLEC):c.12663G>C (p.Gln4221His) rs782601590 0.00002
NM_201384.3(PLEC):c.4442G>A (p.Arg1481Gln) rs782080543 0.00002
NM_201384.3(PLEC):c.7044G>C (p.Glu2348Asp) rs782060299 0.00002
NM_201384.3(PLEC):c.8324C>G (p.Thr2775Ser) rs782209648 0.00002
NM_201384.3(PLEC):c.10616G>A (p.Arg3539His) rs201235310 0.00001
NM_201384.3(PLEC):c.10679A>G (p.Glu3560Gly) rs1554677246 0.00001
NM_201384.3(PLEC):c.12244G>A (p.Asp4082Asn) rs201221940 0.00001
NM_201384.3(PLEC):c.1612C>T (p.Arg538Cys) rs782678779 0.00001
NM_201384.3(PLEC):c.3086C>T (p.Ala1029Val) rs1554710595 0.00001
NM_201384.3(PLEC):c.3526C>T (p.Arg1176Cys) rs567457709 0.00001
NM_201384.3(PLEC):c.4033G>A (p.Glu1345Lys) rs375230228 0.00001
NM_201384.3(PLEC):c.4210C>T (p.Arg1404Trp) rs782370378 0.00001
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val) rs548430154 0.00001
NM_201384.3(PLEC):c.6095C>T (p.Ser2032Leu) rs782658240 0.00001
NM_201384.3(PLEC):c.6320C>T (p.Ser2107Phe) rs782287448 0.00001
NM_201384.3(PLEC):c.6437C>T (p.Ala2146Val) rs563755990 0.00001
NM_201384.3(PLEC):c.7195G>A (p.Ala2399Thr) rs782779334 0.00001
NM_201384.3(PLEC):c.735G>C (p.Gln245His) rs782586855 0.00001
NM_201384.3(PLEC):c.8030C>T (p.Thr2677Ile) rs781973277 0.00001
NM_201384.3(PLEC):c.8344A>G (p.Thr2782Ala) rs782190805 0.00001
NM_201384.3(PLEC):c.853C>T (p.Arg285Trp) rs562600992 0.00001
NM_201378.4(PLEC):c.48G>T (p.Glu16Asp) rs781812480
NM_201378.4(PLEC):c.71-11629G>A rs782692739
NM_201378.4(PLEC):c.71-11710G>T rs200335928
NM_201384.3(PLEC):c.1016C>A (p.Ser339Tyr) rs1564147580
NM_201384.3(PLEC):c.10316C>T (p.Pro3439Leu)
NM_201384.3(PLEC):c.10376A>C (p.Gln3459Pro) rs2130993891
NM_201384.3(PLEC):c.10438A>G (p.Ser3480Gly)
NM_201384.3(PLEC):c.10972A>G (p.Ile3658Val)
NM_201384.3(PLEC):c.11299G>A (p.Ala3767Thr)
NM_201384.3(PLEC):c.11711A>G (p.Asp3904Gly)
NM_201384.3(PLEC):c.12941C>T (p.Ala4314Val) rs1057519154
NM_201384.3(PLEC):c.1307G>A (p.Gly436Glu)
NM_201384.3(PLEC):c.13283T>C (p.Val4428Ala)
NM_201384.3(PLEC):c.1441C>A (p.Leu481Met)
NM_201384.3(PLEC):c.2114G>A (p.Ser705Asn) rs1587069275
NM_201384.3(PLEC):c.3248T>C (p.Ile1083Thr)
NM_201384.3(PLEC):c.3774C>T (p.Ile1258=) rs200582060
NM_201384.3(PLEC):c.4201GTG[1] (p.Val1402del)
NM_201384.3(PLEC):c.4246C>T (p.Arg1416Cys)
NM_201384.3(PLEC):c.5118G>T (p.Gln1706His)
NM_201384.3(PLEC):c.5828AGCTGG[2] (p.1943EL[2]) rs782811601
NM_201384.3(PLEC):c.5855G>A (p.Arg1952His) rs782475966
NM_201384.3(PLEC):c.5987C>T (p.Ala1996Val)
NM_201384.3(PLEC):c.6137G>T (p.Arg2046Leu) rs368319141
NM_201384.3(PLEC):c.6930G>C (p.Lys2310Asn)
NM_201384.3(PLEC):c.6931A>T (p.Met2311Leu)
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7396G>A (p.Ala2466Thr)
NM_201384.3(PLEC):c.742G>A (p.Glu248Lys)
NM_201384.3(PLEC):c.7591C>G (p.Arg2531Gly)
NM_201384.3(PLEC):c.7680T>A (p.His2560Gln) rs1554688497
NM_201384.3(PLEC):c.8262G>A (p.Val2754=) rs1392212781
NM_201384.3(PLEC):c.862_867dup (p.Leu289_Leu290insValLeu)
NM_201384.3(PLEC):c.9479G>C (p.Arg3160Pro) rs782280714

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