ClinVar Miner

List of variants in gene PLCE1 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn) rs61751498 0.00200
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val) rs61751494 0.00188
NM_016341.4(PLCE1):c.-54G>T rs41291122 0.00147
NM_016341.4(PLCE1):c.-537G>A rs573255713 0.00114
NM_016341.4(PLCE1):c.642A>T (p.Gly214=) rs149064632 0.00110
NM_016341.4(PLCE1):c.513G>A (p.Val171=) rs61749239 0.00101
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) rs202171627 0.00101
NM_016341.4(PLCE1):c.1400C>T (p.Thr467Ile) rs192219615 0.00098
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=) rs369632735 0.00076
NM_016341.4(PLCE1):c.3814+13T>G rs199705167 0.00061
NM_016341.4(PLCE1):c.1461T>C (p.Phe487=) rs374646299 0.00059
NM_016341.4(PLCE1):c.633C>T (p.Asp211=) rs201117145 0.00046
NM_016341.4(PLCE1):c.2214+7C>T rs201418194 0.00042
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His) rs201401363 0.00035
NM_016341.4(PLCE1):c.-351T>G rs533595233 0.00029
NM_016341.4(PLCE1):c.3594C>T (p.Gly1198=) rs149614492 0.00018
NM_016341.4(PLCE1):c.3579C>T (p.His1193=) rs368956195 0.00014
NM_016341.4(PLCE1):c.3133G>T (p.Ala1045Ser) rs200419008 0.00013
NM_016341.4(PLCE1):c.5778C>T (p.Phe1926=) rs78828338 0.00012
NM_016341.4(PLCE1):c.1389G>A (p.Ser463=) rs750894632 0.00011
NM_016341.4(PLCE1):c.3335A>G (p.His1112Arg) rs775231257 0.00010
NM_016341.4(PLCE1):c.-459G>A rs1045456355 0.00009
NM_016341.4(PLCE1):c.-63C>T rs921038961 0.00009
NM_016341.4(PLCE1):c.3990C>T (p.Asn1330=) rs368399893 0.00009
NM_016341.4(PLCE1):c.296C>T (p.Ala99Val) rs761055810 0.00007
NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=) rs367640320 0.00007
NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val) rs372621219 0.00006
NM_016341.4(PLCE1):c.2635C>T (p.Arg879Cys) rs372756642 0.00006
NM_016341.4(PLCE1):c.3184G>A (p.Gly1062Arg) rs773093424 0.00006
NM_016341.4(PLCE1):c.2184G>A (p.Pro728=) rs760049549 0.00005
NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn) rs776583769 0.00005
NM_016341.4(PLCE1):c.72G>A (p.Ser24=) rs558409444 0.00005
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys) rs761213168 0.00004
NM_016341.4(PLCE1):c.1496G>A (p.Arg499His) rs757336023 0.00004
NM_016341.4(PLCE1):c.174C>T (p.Asn58=) rs761575973 0.00004
NM_016341.4(PLCE1):c.2164G>A (p.Gly722Ser) rs200013667 0.00004
NM_016341.4(PLCE1):c.3719A>G (p.Tyr1240Cys) rs975453016 0.00004
NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val) rs763348713 0.00004
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00003
NM_016341.4(PLCE1):c.1698T>A (p.Pro566=) rs377307234 0.00003
NM_016341.4(PLCE1):c.323A>G (p.Asn108Ser) rs886047493 0.00003
NM_016341.4(PLCE1):c.3583C>T (p.Arg1195Trp) rs747635422 0.00003
NM_016341.4(PLCE1):c.4412G>A (p.Arg1471His) rs199793703 0.00003
NM_016341.4(PLCE1):c.5607A>G (p.Ala1869=) rs536348835 0.00003
NM_016341.4(PLCE1):c.-468A>G rs886047490 0.00002
NM_016341.4(PLCE1):c.3215A>G (p.Asn1072Ser) rs764019766 0.00002
NM_016341.4(PLCE1):c.3980T>G (p.Leu1327Arg) rs1345048932 0.00002
NM_016341.4(PLCE1):c.-257G>T rs2061542306 0.00001
NM_016341.4(PLCE1):c.-48C>G rs554052819 0.00001
NM_016341.4(PLCE1):c.1569C>T (p.Ile523=) rs2047966560 0.00001
NM_016341.4(PLCE1):c.1642C>T (p.Arg548Cys) rs369152754 0.00001
NM_016341.4(PLCE1):c.2323C>T (p.Arg775Trp) rs761776701 0.00001
NM_016341.4(PLCE1):c.2770G>A (p.Gly924Ser) rs758463243 0.00001
NM_016341.4(PLCE1):c.2827G>T (p.Ala943Ser) rs773857638 0.00001
NM_016341.4(PLCE1):c.2842C>T (p.His948Tyr) rs757606247 0.00001
NM_016341.4(PLCE1):c.3098A>C (p.Glu1033Ala) rs2050907070 0.00001
NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=) rs886047501 0.00001
NM_016341.4(PLCE1):c.4341G>A (p.Met1447Ile) rs766196444 0.00001
NM_016341.4(PLCE1):c.441G>A (p.Lys147=) rs758420946 0.00001
NM_016341.4(PLCE1):c.4447A>G (p.Ile1483Val) rs886047503 0.00001
NM_016341.4(PLCE1):c.459A>G (p.Gln153=) rs886047494 0.00001
NM_016341.4(PLCE1):c.4810G>T (p.Asp1604Tyr) rs765634224 0.00001
NM_016341.4(PLCE1):c.5035+6A>G rs745620771 0.00001
NM_016341.4(PLCE1):c.5139A>T (p.Thr1713=) rs747614650 0.00001
NM_016341.4(PLCE1):c.5175T>C (p.Cys1725=) rs752359550 0.00001
NM_016341.4(PLCE1):c.5274G>A (p.Ser1758=) rs575233796 0.00001
NM_016341.4(PLCE1):c.673A>G (p.Lys225Glu) rs774497694 0.00001
NM_016341.4(PLCE1):c.927T>C (p.Asp309=) rs764907675 0.00001
NM_016341.4(PLCE1):c.-226del rs886047492
NM_016341.4(PLCE1):c.-433G>T rs886047491
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) rs564879389
NM_016341.4(PLCE1):c.1193C>G (p.Ala398Gly) rs2061573367
NM_016341.4(PLCE1):c.1290G>A (p.Glu430=) rs867246620
NM_016341.4(PLCE1):c.1383A>G (p.Ser461=) rs756176410
NM_016341.4(PLCE1):c.1421C>T (p.Thr474Ile) rs886047499
NM_016341.4(PLCE1):c.1807G>A (p.Glu603Lys) rs554159388
NM_016341.4(PLCE1):c.1927G>A (p.Ala643Thr) rs61886330
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) rs61886330
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) rs201422605
NM_016341.4(PLCE1):c.227C>A (p.Ala76Glu) rs61749238
NM_016341.4(PLCE1):c.2598G>C (p.Thr866=) rs368426208
NM_016341.4(PLCE1):c.2864C>G (p.Thr955Ser) rs780213480
NM_016341.4(PLCE1):c.3279+4G>T rs886047500
NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala) rs61732523
NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val) rs61732523
NM_016341.4(PLCE1):c.3449A>G (p.His1150Arg) rs778868001
NM_016341.4(PLCE1):c.3930T>C (p.Asn1310=) rs2051341070
NM_016341.4(PLCE1):c.4050C>T (p.Ile1350=) rs2051346272
NM_016341.4(PLCE1):c.4127A>T (p.Asp1376Val) rs2051493957
NM_016341.4(PLCE1):c.4165G>A (p.Glu1389Lys) rs886047502
NM_016341.4(PLCE1):c.4341G>C (p.Met1447Ile) rs766196444
NM_016341.4(PLCE1):c.4435C>T (p.Leu1479=) rs958946520
NM_016341.4(PLCE1):c.4507-10T>A rs771160105
NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln) rs2274224
NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile) rs61732525
NM_016341.4(PLCE1):c.4924G>A (p.Asp1642Asn) rs886047504
NM_016341.4(PLCE1):c.5099T>C (p.Ile1700Thr) rs886047505
NM_016341.4(PLCE1):c.5168-6G>T rs148239915
NM_016341.4(PLCE1):c.5313G>T (p.Arg1771Ser) rs781690094
NM_016341.4(PLCE1):c.576A>C (p.Glu192Asp) rs886047495
NM_016341.4(PLCE1):c.699T>C (p.Tyr233=) rs886047496
NM_016341.4(PLCE1):c.713T>C (p.Met238Thr) rs1304398531
NM_016341.4(PLCE1):c.724A>C (p.Lys242Gln) rs886047497
NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys) rs1193922904
NM_016341.4(PLCE1):c.950G>A (p.Ser317Asn) rs886047498

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