ClinVar Miner

List of variants reported as uncertain significance for Nephrotic syndrome, type 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
Download table as spreadsheet
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.*5G>C rs149932305 0.00130
NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser) rs199781223 0.00127
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.4586A>T (p.Asp1529Val) rs182314619 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.6640G>A (p.Asp2214Asn) rs373489516 0.00022
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.1698T>A (p.Pro566=) rs377307234 0.00013
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.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.3184G>A (p.Gly1062Arg) rs773093424 0.00006
NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe) rs180753337 0.00006
NM_016341.4(PLCE1):c.4918-3C>T rs367867424 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.1090A>G (p.Ile364Val) rs372621219 0.00004
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys) rs761213168 0.00004
NM_016341.4(PLCE1):c.1472C>A (p.Thr491Asn) rs150173742 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.2635C>T (p.Arg879Cys) rs372756642 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.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.*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.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.2960A>G (p.His987Arg) rs762245091 0.00001
NM_016341.4(PLCE1):c.3098A>C (p.Glu1033Ala) rs2050907070 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.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.6720+10A>G rs752683058 0.00001
NM_016341.4(PLCE1):c.673A>G (p.Lys225Glu) rs774497694 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
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.100T>C (p.Ser34Pro)
NM_016341.4(PLCE1):c.1039A>G (p.Ile347Val)
NM_016341.4(PLCE1):c.106A>G (p.Ile36Val)
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) rs564879389
NM_016341.4(PLCE1):c.10G>C (p.Glu4Gln)
NM_016341.4(PLCE1):c.1109G>A (p.Gly370Asp)
NM_016341.4(PLCE1):c.1112C>G (p.Pro371Arg)
NM_016341.4(PLCE1):c.1132G>C (p.Val378Leu)
NM_016341.4(PLCE1):c.1141C>T (p.Pro381Ser)
NM_016341.4(PLCE1):c.1146G>C (p.Pro382=)
NM_016341.4(PLCE1):c.1166A>G (p.Gln389Arg)
NM_016341.4(PLCE1):c.1193C>G (p.Ala398Gly) rs2061573367
NM_016341.4(PLCE1):c.1202A>G (p.Tyr401Cys)
NM_016341.4(PLCE1):c.1207-43031G>A
NM_016341.4(PLCE1):c.1246G>A (p.Val416Ile)
NM_016341.4(PLCE1):c.1250G>C (p.Gly417Ala)
NM_016341.4(PLCE1):c.1250G>T (p.Gly417Val)
NM_016341.4(PLCE1):c.1252T>G (p.Ser418Ala)
NM_016341.4(PLCE1):c.1283C>T (p.Ala428Val)
NM_016341.4(PLCE1):c.1290G>A (p.Glu430=) rs867246620
NM_016341.4(PLCE1):c.1299T>G (p.His433Gln)
NM_016341.4(PLCE1):c.1319C>T (p.Pro440Leu)
NM_016341.4(PLCE1):c.1322G>A (p.Cys441Tyr)
NM_016341.4(PLCE1):c.1331A>C (p.Gln444Pro)
NM_016341.4(PLCE1):c.1361G>A (p.Arg454His)
NM_016341.4(PLCE1):c.1363G>A (p.Ala455Thr)
NM_016341.4(PLCE1):c.1383A>G (p.Ser461=) rs756176410
NM_016341.4(PLCE1):c.139A>C (p.Ser47Arg)
NM_016341.4(PLCE1):c.1420A>G (p.Thr474Ala)
NM_016341.4(PLCE1):c.1421C>T (p.Thr474Ile) rs886047499
NM_016341.4(PLCE1):c.1443T>A (p.Ser481Arg)
NM_016341.4(PLCE1):c.1474G>C (p.Gly492Arg)
NM_016341.4(PLCE1):c.1508C>T (p.Pro503Leu)
NM_016341.4(PLCE1):c.1528G>A (p.Ala510Thr)
NM_016341.4(PLCE1):c.1556G>A (p.Ser519Asn)
NM_016341.4(PLCE1):c.1569C>G (p.Ile523Met)
NM_016341.4(PLCE1):c.1586T>C (p.Ile529Thr)
NM_016341.4(PLCE1):c.1590G>A (p.Gln530=)
NM_016341.4(PLCE1):c.1614C>G (p.Ile538Met)
NM_016341.4(PLCE1):c.1648G>T (p.Val550Phe) rs377400616
NM_016341.4(PLCE1):c.1682G>A (p.Arg561Gln)
NM_016341.4(PLCE1):c.1788T>A (p.Asp596Glu)
NM_016341.4(PLCE1):c.1788T>G (p.Asp596Glu)
NM_016341.4(PLCE1):c.1797G>A (p.Met599Ile)
NM_016341.4(PLCE1):c.1807G>A (p.Glu603Lys) rs554159388
NM_016341.4(PLCE1):c.1882T>C (p.Leu628=)
NM_016341.4(PLCE1):c.1893G>A (p.Val631=)
NM_016341.4(PLCE1):c.1916G>A (p.Gly639Asp)
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.1956-4A>G
NM_016341.4(PLCE1):c.1995G>T (p.Gln665His)
NM_016341.4(PLCE1):c.2015G>A (p.Arg672Lys)
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) rs201422605
NM_016341.4(PLCE1):c.2036C>T (p.Ala679Val)
NM_016341.4(PLCE1):c.2042A>C (p.His681Pro)
NM_016341.4(PLCE1):c.2072T>C (p.Val691Ala)
NM_016341.4(PLCE1):c.2077C>T (p.Arg693Cys)
NM_016341.4(PLCE1):c.2099G>A (p.Cys700Tyr)
NM_016341.4(PLCE1):c.2107G>T (p.Val703Phe)
NM_016341.4(PLCE1):c.2121G>T (p.Gly707=)
NM_016341.4(PLCE1):c.2129T>C (p.Leu710Pro)
NM_016341.4(PLCE1):c.2155G>A (p.Gly719Ser)
NM_016341.4(PLCE1):c.2171T>C (p.Met724Thr)
NM_016341.4(PLCE1):c.2186G>A (p.Arg729Gln)
NM_016341.4(PLCE1):c.2190C>T (p.Tyr730=)
NM_016341.4(PLCE1):c.2191A>G (p.Asn731Asp)
NM_016341.4(PLCE1):c.2218G>C (p.Val740Leu)
NM_016341.4(PLCE1):c.2255G>A (p.Arg752Gln)
NM_016341.4(PLCE1):c.227C>A (p.Ala76Glu) rs61749238
NM_016341.4(PLCE1):c.2282C>T (p.Ser761Leu)
NM_016341.4(PLCE1):c.230G>A (p.Arg77Lys)
NM_016341.4(PLCE1):c.2328C>G (p.Ser776Arg)
NM_016341.4(PLCE1):c.234G>C (p.Glu78Asp)
NM_016341.4(PLCE1):c.2414G>T (p.Arg805Leu)
NM_016341.4(PLCE1):c.2420+11C>T
NM_016341.4(PLCE1):c.242T>G (p.Val81Gly)
NM_016341.4(PLCE1):c.2522A>C (p.His841Pro)
NM_016341.4(PLCE1):c.2542T>A (p.Trp848Arg)
NM_016341.4(PLCE1):c.2548G>A (p.Val850Met)
NM_016341.4(PLCE1):c.2598G>C (p.Thr866=) rs368426208
NM_016341.4(PLCE1):c.2636G>A (p.Arg879His)
NM_016341.4(PLCE1):c.2659G>A (p.Asp887Asn)
NM_016341.4(PLCE1):c.268T>A (p.Cys90Ser)
NM_016341.4(PLCE1):c.2690C>A (p.Thr897Lys)
NM_016341.4(PLCE1):c.269G>T (p.Cys90Phe)
NM_016341.4(PLCE1):c.2726G>A (p.Gly909Asp)
NM_016341.4(PLCE1):c.276G>T (p.Glu92Asp)
NM_016341.4(PLCE1):c.2790C>G (p.Ser930Arg)
NM_016341.4(PLCE1):c.2795C>T (p.Thr932Met)
NM_016341.4(PLCE1):c.2864C>G (p.Thr955Ser) rs780213480
NM_016341.4(PLCE1):c.2873T>C (p.Val958Ala)
NM_016341.4(PLCE1):c.2892C>T (p.Ser964=)
NM_016341.4(PLCE1):c.2895G>A (p.Met965Ile)
NM_016341.4(PLCE1):c.28G>A (p.Val10Ile)
NM_016341.4(PLCE1):c.3001G>A (p.Gly1001Arg)
NM_016341.4(PLCE1):c.3025G>A (p.Val1009Met)
NM_016341.4(PLCE1):c.3027G>A (p.Val1009=)
NM_016341.4(PLCE1):c.3056G>A (p.Arg1019Lys)
NM_016341.4(PLCE1):c.3082G>T (p.Val1028Phe)
NM_016341.4(PLCE1):c.3096+5G>A
NM_016341.4(PLCE1):c.3130C>T (p.His1044Tyr)
NM_016341.4(PLCE1):c.3170G>A (p.Arg1057Gln)
NM_016341.4(PLCE1):c.3191C>T (p.Ser1064Leu)
NM_016341.4(PLCE1):c.3196A>G (p.Lys1066Glu)
NM_016341.4(PLCE1):c.3202G>C (p.Ala1068Pro)
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.3304G>A (p.Asp1102Asn)
NM_016341.4(PLCE1):c.3311T>C (p.Met1104Thr)
NM_016341.4(PLCE1):c.3332T>C (p.Met1111Thr)
NM_016341.4(PLCE1):c.3347G>A (p.Arg1116Gln)
NM_016341.4(PLCE1):c.3359G>T (p.Gly1120Val)
NM_016341.4(PLCE1):c.3365A>G (p.Asp1122Gly)
NM_016341.4(PLCE1):c.3374A>G (p.Asp1125Gly)
NM_016341.4(PLCE1):c.3376A>G (p.Ile1126Val)
NM_016341.4(PLCE1):c.3382G>A (p.Glu1128Lys)
NM_016341.4(PLCE1):c.3398A>G (p.Glu1133Gly)
NM_016341.4(PLCE1):c.3412G>A (p.Ala1138Thr)
NM_016341.4(PLCE1):c.3427C>A (p.Pro1143Thr)
NM_016341.4(PLCE1):c.3429C>T (p.Pro1143=)
NM_016341.4(PLCE1):c.3449A>G (p.His1150Arg) rs778868001
NM_016341.4(PLCE1):c.3463G>A (p.Ala1155Thr)
NM_016341.4(PLCE1):c.3484G>T (p.Ala1162Ser)
NM_016341.4(PLCE1):c.3487G>A (p.Gly1163Arg)
NM_016341.4(PLCE1):c.3504C>G (p.Ile1168Met)
NM_016341.4(PLCE1):c.3512T>C (p.Val1171Ala)
NM_016341.4(PLCE1):c.3554+17A>C
NM_016341.4(PLCE1):c.3618C>T (p.Phe1206=)
NM_016341.4(PLCE1):c.3623T>C (p.Val1208Ala)
NM_016341.4(PLCE1):c.3646G>A (p.Val1216Ile)
NM_016341.4(PLCE1):c.3670T>A (p.Ser1224Thr)
NM_016341.4(PLCE1):c.3705T>G (p.Asp1235Glu)
NM_016341.4(PLCE1):c.3740C>T (p.Ser1247Phe)
NM_016341.4(PLCE1):c.3815-18G>A
NM_016341.4(PLCE1):c.3832G>A (p.Val1278Ile)
NM_016341.4(PLCE1):c.3832G>C (p.Val1278Leu) rs754487813
NM_016341.4(PLCE1):c.3889C>G (p.Gln1297Glu)
NM_016341.4(PLCE1):c.3930T>C (p.Asn1310=) rs2051341070
NM_016341.4(PLCE1):c.3976A>T (p.Ile1326Leu)
NM_016341.4(PLCE1):c.397G>T (p.Asp133Tyr)
NM_016341.4(PLCE1):c.3988A>G (p.Asn1330Asp)
NM_016341.4(PLCE1):c.3997C>T (p.Leu1333Phe)
NM_016341.4(PLCE1):c.4007G>A (p.Cys1336Tyr)
NM_016341.4(PLCE1):c.4008C>T (p.Cys1336=)
NM_016341.4(PLCE1):c.4050C>T (p.Ile1350=) rs2051346272
NM_016341.4(PLCE1):c.4053G>A (p.Gln1351=)
NM_016341.4(PLCE1):c.4116-10T>C
NM_016341.4(PLCE1):c.4124T>C (p.Met1375Thr)
NM_016341.4(PLCE1):c.4127A>T (p.Asp1376Val) rs2051493957
NM_016341.4(PLCE1):c.4138T>G (p.Phe1380Val)
NM_016341.4(PLCE1):c.4157A>T (p.Glu1386Val)
NM_016341.4(PLCE1):c.4165G>A (p.Glu1389Lys) rs886047502
NM_016341.4(PLCE1):c.4184A>G (p.Gln1395Arg)
NM_016341.4(PLCE1):c.4210G>A (p.Glu1404Lys)
NM_016341.4(PLCE1):c.4219C>T (p.His1407Tyr)
NM_016341.4(PLCE1):c.4236G>A (p.Thr1412=)
NM_016341.4(PLCE1):c.4249A>C (p.Lys1417Gln)
NM_016341.4(PLCE1):c.4269A>C (p.Glu1423Asp) rs2051499855
NM_016341.4(PLCE1):c.4333G>A (p.Asp1445Asn)
NM_016341.4(PLCE1):c.4341G>C (p.Met1447Ile) rs766196444
NM_016341.4(PLCE1):c.4434C>A (p.Asp1478Glu)
NM_016341.4(PLCE1):c.4435C>T (p.Leu1479=) rs958946520
NM_016341.4(PLCE1):c.4439C>A (p.Pro1480Gln)
NM_016341.4(PLCE1):c.4441A>G (p.Ile1481Val)
NM_016341.4(PLCE1):c.4465T>C (p.Cys1489Arg)
NM_016341.4(PLCE1):c.4466G>A (p.Cys1489Tyr)
NM_016341.4(PLCE1):c.4507-10T>A rs771160105
NM_016341.4(PLCE1):c.4558T>G (p.Ser1520Ala)
NM_016341.4(PLCE1):c.4579T>C (p.Ser1527Pro)
NM_016341.4(PLCE1):c.4667C>T (p.Ala1556Val)
NM_016341.4(PLCE1):c.4690G>A (p.Val1564Met)
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.4740_4742del (p.Glu1583del)
NM_016341.4(PLCE1):c.47A>G (p.Gln16Arg)
NM_016341.4(PLCE1):c.481A>G (p.Met161Val)
NM_016341.4(PLCE1):c.4917+3G>A
NM_016341.4(PLCE1):c.4917+9A>G
NM_016341.4(PLCE1):c.4921T>C (p.Tyr1641His)
NM_016341.4(PLCE1):c.4924G>A (p.Asp1642Asn) rs886047504
NM_016341.4(PLCE1):c.5019A>G (p.Gln1673=)
NM_016341.4(PLCE1):c.5035+5G>T
NM_016341.4(PLCE1):c.5063C>G (p.Ser1688Cys)
NM_016341.4(PLCE1):c.5069G>A (p.Arg1690Lys)
NM_016341.4(PLCE1):c.5092A>G (p.Lys1698Glu)
NM_016341.4(PLCE1):c.5099T>C (p.Ile1700Thr) rs886047505
NM_016341.4(PLCE1):c.5151C>A (p.Asn1717Lys)
NM_016341.4(PLCE1):c.5168-6G>T rs148239915
NM_016341.4(PLCE1):c.517A>G (p.Ile173Val)
NM_016341.4(PLCE1):c.5194T>C (p.Trp1732Arg)
NM_016341.4(PLCE1):c.5228C>T (p.Thr1743Met)
NM_016341.4(PLCE1):c.5232_5240del (p.Leu1745_Ala1747del)
NM_016341.4(PLCE1):c.5300G>A (p.Arg1767His)
NM_016341.4(PLCE1):c.5313G>T (p.Arg1771Ser) rs781690094
NM_016341.4(PLCE1):c.5459-12T>C
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.5591A>G (p.Asp1864Gly)
NM_016341.4(PLCE1):c.5595C>G (p.Ser1865Arg)
NM_016341.4(PLCE1):c.5650A>G (p.Ser1884Gly)
NM_016341.4(PLCE1):c.5704G>A (p.Asp1902Asn)
NM_016341.4(PLCE1):c.5708G>A (p.Ser1903Asn)
NM_016341.4(PLCE1):c.5720G>A (p.Arg1907His)
NM_016341.4(PLCE1):c.576A>C (p.Glu192Asp) rs886047495
NM_016341.4(PLCE1):c.578T>C (p.Val193Ala)
NM_016341.4(PLCE1):c.5794G>A (p.Asp1932Asn)
NM_016341.4(PLCE1):c.5906G>A (p.Arg1969Gln)
NM_016341.4(PLCE1):c.5939G>A (p.Ser1980Asn)
NM_016341.4(PLCE1):c.5968G>A (p.Glu1990Lys)
NM_016341.4(PLCE1):c.6003+6G>A
NM_016341.4(PLCE1):c.6004A>G (p.Met2002Val)
NM_016341.4(PLCE1):c.6042C>G (p.His2014Gln)
NM_016341.4(PLCE1):c.6050C>T (p.Thr2017Met)
NM_016341.4(PLCE1):c.605G>A (p.Cys202Tyr)
NM_016341.4(PLCE1):c.6061G>A (p.Val2021Ile)
NM_016341.4(PLCE1):c.6063C>T (p.Val2021=)
NM_016341.4(PLCE1):c.6076C>G (p.Pro2026Ala)
NM_016341.4(PLCE1):c.6101G>C (p.Gly2034Ala)
NM_016341.4(PLCE1):c.6107C>G (p.Thr2036Ser)
NM_016341.4(PLCE1):c.6133-5T>G
NM_016341.4(PLCE1):c.6155T>A (p.Ile2052Asn) rs2053582229
NM_016341.4(PLCE1):c.6172G>A (p.Asp2058Asn)
NM_016341.4(PLCE1):c.6173A>T (p.Asp2058Val)
NM_016341.4(PLCE1):c.6201T>G (p.Phe2067Leu)
NM_016341.4(PLCE1):c.6220G>C (p.Glu2074Gln)
NM_016341.4(PLCE1):c.6227G>A (p.Arg2076Lys)
NM_016341.4(PLCE1):c.6234A>T (p.Gln2078His)
NM_016341.4(PLCE1):c.6271A>G (p.Met2091Val)
NM_016341.4(PLCE1):c.6310A>C (p.Met2104Leu) rs760229823
NM_016341.4(PLCE1):c.6312G>A (p.Met2104Ile)
NM_016341.4(PLCE1):c.6362T>C (p.Ile2121Thr)
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.6404A>G (p.Glu2135Gly)
NM_016341.4(PLCE1):c.6437C>T (p.Pro2146Leu)
NM_016341.4(PLCE1):c.6500A>G (p.Gln2167Arg)
NM_016341.4(PLCE1):c.6556G>A (p.Asp2186Asn)
NM_016341.4(PLCE1):c.6570G>C (p.Leu2190Phe)
NM_016341.4(PLCE1):c.6582G>A (p.Val2194=)
NM_016341.4(PLCE1):c.65C>T (p.Ala22Val)
NM_016341.4(PLCE1):c.6619T>A (p.Ser2207Thr)
NM_016341.4(PLCE1):c.661G>A (p.Gly221Arg)
NM_016341.4(PLCE1):c.6672G>C (p.Lys2224Asn)
NM_016341.4(PLCE1):c.6752C>A (p.Ser2251Tyr)
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) rs180876175
NM_016341.4(PLCE1):c.6782A>C (p.Lys2261Thr)
NM_016341.4(PLCE1):c.6850A>G (p.Lys2284Glu)
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del) rs771798085
NM_016341.4(PLCE1):c.689A>G (p.Tyr230Cys)
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.714G>A (p.Met238Ile)
NM_016341.4(PLCE1):c.71C>T (p.Ser24Leu)
NM_016341.4(PLCE1):c.724A>C (p.Lys242Gln) rs886047497
NM_016341.4(PLCE1):c.736A>T (p.Asn246Tyr)
NM_016341.4(PLCE1):c.73G>A (p.Ala25Thr)
NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys) rs1193922904
NM_016341.4(PLCE1):c.755A>C (p.Gln252Pro)
NM_016341.4(PLCE1):c.773C>T (p.Thr258Ile)
NM_016341.4(PLCE1):c.775T>A (p.Leu259Met)
NM_016341.4(PLCE1):c.799G>C (p.Glu267Gln)
NM_016341.4(PLCE1):c.822C>G (p.Asp274Glu)
NM_016341.4(PLCE1):c.826G>T (p.Val276Leu)
NM_016341.4(PLCE1):c.877G>T (p.Ala293Ser)
NM_016341.4(PLCE1):c.883A>G (p.Thr295Ala)
NM_016341.4(PLCE1):c.896A>G (p.His299Arg)
NM_016341.4(PLCE1):c.923A>G (p.Asp308Gly)
NM_016341.4(PLCE1):c.926A>G (p.Asp309Gly)
NM_016341.4(PLCE1):c.940G>A (p.Ala314Thr)
NM_016341.4(PLCE1):c.950G>A (p.Ser317Asn) rs886047498
NM_016341.4(PLCE1):c.957G>C (p.Lys319Asn)
NM_016341.4(PLCE1):c.962G>A (p.Arg321Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.