ClinVar Miner

List of variants studied for Nephrotic syndrome, type 3

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Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.3398-28C>G rs10786156 0.46797
NM_016341.4(PLCE1):c.-558A>G rs2911857 0.41925
NM_016341.4(PLCE1):c.810T>C (p.Cys270=) rs17109671 0.40626
NM_016341.4(PLCE1):c.960G>A (p.Glu320=) rs17109674 0.32407
NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) rs3765524 0.31528
NM_016341.4(PLCE1):c.-135G>A rs10882386 0.31428
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) rs2274223 0.31202
NM_016341.4(PLCE1):c.5035+12C>A rs3736901 0.28787
NM_016341.4(PLCE1):c.6003+24A>G rs11187850 0.26283
NM_016341.4(PLCE1):c.6720+49dup rs3831084 0.23303
NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) rs17417407 0.15541
NM_016341.4(PLCE1):c.*28A>G rs3203713 0.13805
NM_016341.4(PLCE1):c.5458+7G>A rs17516758 0.13792
NM_016341.4(PLCE1):c.6324C>G (p.Val2108=) rs942676 0.12398
NM_016341.4(PLCE1):c.*166G>C rs11187870 0.06391
NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=) rs41291134 0.05210
NM_016341.4(PLCE1):c.-525T>C rs75639609 0.03061
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02979
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522 0.02481
NM_016341.4(PLCE1):c.*253C>T rs79412094 0.01314
NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu) rs58539480 0.01296
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499 0.00977
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496 0.00975
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885 0.00444
NM_016341.4(PLCE1):c.-287G>A rs17506379 0.00415
NM_016341.4(PLCE1):c.-246A>G rs139061122 0.00403
NM_016341.4(PLCE1):c.-165T>C rs183919560 0.00397
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg) rs111929795 0.00359
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile) rs61751497 0.00284
NM_016341.4(PLCE1):c.6501+18C>T rs76861037 0.00265
NM_016341.4(PLCE1):c.2428A>G (p.Ile810Val) rs78217273 0.00251
NM_016341.4(PLCE1):c.3279+12T>C rs139184808 0.00232
NM_016341.4(PLCE1):c.-47A>G rs11187771 0.00223
NM_016341.4(PLCE1):c.2157C>T (p.Gly719=) rs200164874 0.00208
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.1495C>T (p.Arg499Cys) rs61751493 0.00134
NM_016341.4(PLCE1):c.*5G>C rs149932305 0.00130
NM_016341.4(PLCE1):c.6342+13G>A rs75283731 0.00129
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.2352C>T (p.Asp784=) rs201793869 0.00044
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.*268T>C rs146319051 0.00031
NM_016341.4(PLCE1):c.-160G>A rs186468483 0.00029
NM_016341.4(PLCE1):c.-351T>G rs533595233 0.00029
NM_016341.4(PLCE1):c.6342+15G>A rs372816882 0.00024
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.*219C>G rs376587612 0.00010
NM_016341.4(PLCE1):c.*220T>G rs184484950 0.00010
NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala) rs199689540 0.00010
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.3303C>T (p.Asp1101=) rs773286585 0.00009
NM_016341.4(PLCE1):c.3990C>T (p.Asn1330=) rs368399893 0.00009
NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=) rs200943442 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.1228G>A (p.Glu410Lys) rs145451189 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.3518C>T (p.Ser1173Phe) rs180753337 0.00006
NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu) rs192586920 0.00006
NM_016341.4(PLCE1):c.6691T>C (p.Phe2231Leu) rs376129110 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.6800G>A (p.Arg2267Gln) rs886039892 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.5612A>G (p.Tyr1871Cys) rs762506926 0.00003
NM_016341.4(PLCE1):c.-468A>G rs886047490 0.00002
NM_016341.4(PLCE1):c.2342T>C (p.Leu781Pro) rs201965980 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.5549G>A (p.Cys1850Tyr) rs776276690 0.00002
NM_016341.4(PLCE1):c.5670G>A (p.Pro1890=) rs370864800 0.00002
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter) rs267606954 0.00002
NM_016341.4(PLCE1):c.*390A>G rs886047507 0.00001
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.-640C>T rs1270265043 0.00001
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter) rs121912601 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.3346C>T (p.Arg1116Ter) rs121912602 0.00001
NM_016341.4(PLCE1):c.3491C>T (p.Thr1164Met) rs540730568 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.4483C>T (p.Arg1495Ter) rs548655036 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.664G>C (p.Gly222Arg) rs373215088 0.00001
NM_016341.4(PLCE1):c.6720+10A>G rs752683058 0.00001
NM_016341.4(PLCE1):c.673A>G (p.Lys225Glu) rs774497694 0.00001
NM_016341.4(PLCE1):c.6862C>A (p.Pro2288Thr) rs571727623 0.00001
NM_016341.4(PLCE1):c.733G>A (p.Asp245Asn) rs374137235 0.00001
NM_016341.4(PLCE1):c.927T>C (p.Asp309=) rs764907675 0.00001
GRCh38/hg38 10q23.33(chr10:94131004-94133482)x0
NM_016341.3(PLCE1):c.[6093T>C;6800G>A]
NM_016341.4(PLCE1):c.*116T>C rs886047506
NM_016341.4(PLCE1):c.*196A>C rs2054101184
NM_016341.4(PLCE1):c.*232A>G rs1367591988
NM_016341.4(PLCE1):c.-433G>T rs886047491
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) rs564879389
NM_016341.4(PLCE1):c.1109G>A (p.Gly370Asp)
NM_016341.4(PLCE1):c.1146del (p.Ser383fs) rs876657369
NM_016341.4(PLCE1):c.1148C>A (p.Ser383Ter) rs2134504108
NM_016341.4(PLCE1):c.1185G>A (p.Leu395=) rs762259865
NM_016341.4(PLCE1):c.1193C>G (p.Ala398Gly) rs2061573367
NM_016341.4(PLCE1):c.1207-43031G>A
NM_016341.4(PLCE1):c.1290G>A (p.Glu430=) rs867246620
NM_016341.4(PLCE1):c.1350_1353del (p.Cys451fs)
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.1648G>T (p.Val550Phe) rs377400616
NM_016341.4(PLCE1):c.1807G>A (p.Glu603Lys) rs554159388
NM_016341.4(PLCE1):c.1809+1G>C
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.234G>C (p.Glu78Asp)
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.3058C>T (p.Gln1020Ter) rs895782232
NM_016341.4(PLCE1):c.3065G>A (p.Trp1022Ter) rs1589413498
NM_016341.4(PLCE1):c.3096+5G>A
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.3338_3339del (p.Lys1113fs) rs918508213
NM_016341.4(PLCE1):c.3449A>G (p.His1150Arg) rs778868001
NM_016341.4(PLCE1):c.3610C>T (p.Gln1204Ter)
NM_016341.4(PLCE1):c.3698T>C (p.Leu1233Pro) rs1589433172
NM_016341.4(PLCE1):c.3736C>T (p.Arg1246Ter) rs267606955
NM_016341.4(PLCE1):c.3832G>C (p.Val1278Leu) rs754487813
NM_016341.4(PLCE1):c.3846del (p.Leu1283fs) rs876657370
NM_016341.4(PLCE1):c.3930T>C (p.Asn1310=) rs2051341070
NM_016341.4(PLCE1):c.397G>T (p.Asp133Tyr)
NM_016341.4(PLCE1):c.4050C>T (p.Ile1350=) rs2051346272
NM_016341.4(PLCE1):c.4053G>A (p.Gln1351=)
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.4269A>C (p.Glu1423Asp) rs2051499855
NM_016341.4(PLCE1):c.4301G>A (p.Arg1434Gln)
NM_016341.4(PLCE1):c.4341G>C (p.Met1447Ile) rs766196444
NM_016341.4(PLCE1):c.4363dup (p.Thr1455fs) rs2133104138
NM_016341.4(PLCE1):c.4435C>T (p.Leu1479=) rs958946520
NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu) rs121912605
NM_016341.4(PLCE1):c.4466G>A (p.Cys1489Tyr)
NM_016341.4(PLCE1):c.4477C>T (p.Gln1493Ter) rs2051691492
NM_016341.4(PLCE1):c.4506+1G>A rs2133127091
NM_016341.4(PLCE1):c.4507-10T>A rs771160105
NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln) rs2274224
NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) rs2274224
NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser) rs61732525
NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile) rs61732525
NM_016341.4(PLCE1):c.4846C>T (p.Gln1616Ter) rs121912603
NM_016341.4(PLCE1):c.4924G>A (p.Asp1642Asn) rs886047504
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016341.4(PLCE1):c.5099T>C (p.Ile1700Thr) rs886047505
NM_016341.4(PLCE1):c.5168-1G>A rs941409069
NM_016341.4(PLCE1):c.5168-6G>C rs148239915
NM_016341.4(PLCE1):c.5168-6G>T rs148239915
NM_016341.4(PLCE1):c.5313G>T (p.Arg1771Ser) rs781690094
NM_016341.4(PLCE1):c.5363dup (p.Tyr1788Ter) rs2133537931
NM_016341.4(PLCE1):c.5510G>A (p.Gly1837Asp) rs2053139766
NM_016341.4(PLCE1):c.5518T>G (p.Leu1840Val) rs2133612518
NM_016341.4(PLCE1):c.5559T>G (p.Tyr1853Ter) rs1589509476
NM_016341.4(PLCE1):c.5560C>T (p.Gln1854Ter) rs121912604
NM_016341.4(PLCE1):c.576A>C (p.Glu192Asp) rs886047495
NM_016341.4(PLCE1):c.6155T>A (p.Ile2052Asn) rs2053582229
NM_016341.4(PLCE1):c.6310A>C (p.Met2104Leu) rs760229823
NM_016341.4(PLCE1):c.6364G>A (p.Val2122Ile) rs528942664
NM_016341.4(PLCE1):c.6377_6378del (p.Lys2126fs) rs773902333
NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter) rs267606953
NM_016341.4(PLCE1):c.6570G>C (p.Leu2190Phe)
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) rs180876175
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del) rs771798085
NM_016341.4(PLCE1):c.6901C>T (p.Arg2301Ter) rs1193230553
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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