ClinVar Miner

List of variants in gene EGR2 studied for Charcot-Marie-Tooth disease, type I

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000399.5(EGR2):c.627A>G (p.Pro209=) rs224083 0.01586
NM_000399.5(EGR2):c.169+10G>T rs114201658 0.00953
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229 0.00148
NM_000399.5(EGR2):c.909A>C (p.Ala303=) rs112474655 0.00101
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_000399.5(EGR2):c.534A>G (p.Ala178=) rs370084216 0.00030
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000399.5(EGR2):c.915C>A (p.Ala305=) rs759462455 0.00015
NM_000399.5(EGR2):c.442C>T (p.Pro148Ser) rs147604283 0.00014
NM_000399.5(EGR2):c.137G>T (p.Gly46Val) rs115534601 0.00012
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734 0.00008
NM_000399.5(EGR2):c.229A>G (p.Ser77Gly) rs554815622 0.00008
NM_000399.5(EGR2):c.1386C>G (p.Gly462=) rs768284273 0.00007
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=) rs554727782 0.00006
NM_000399.5(EGR2):c.669C>A (p.Ile223=) rs766860417 0.00006
NM_000399.5(EGR2):c.840G>C (p.Val280=) rs563282095 0.00006
NM_000399.5(EGR2):c.912C>A (p.Ala304=) rs752399953 0.00006
NM_000399.5(EGR2):c.540C>T (p.Asp180=) rs200913249 0.00005
NM_000399.5(EGR2):c.679C>T (p.Pro227Ser) rs794727248 0.00005
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586 0.00004
NM_000399.5(EGR2):c.711C>A (p.Asp237Glu) rs1011150442 0.00004
NM_000399.5(EGR2):c.719G>T (p.Gly240Val) rs775326892 0.00004
NM_000399.5(EGR2):c.801A>T (p.Thr267=) rs758589570 0.00004
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr) rs774442561 0.00004
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765 0.00004
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000399.5(EGR2):c.1053C>T (p.Phe351=) rs754645141 0.00002
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000399.5(EGR2):c.1402C>T (p.Pro468Ser) rs374833463 0.00002
NM_000399.5(EGR2):c.1428T>A (p.Pro476=) rs377518489 0.00002
NM_000399.5(EGR2):c.285G>A (p.Lys95=) rs1050343149 0.00002
NM_000399.5(EGR2):c.561G>A (p.Ala187=) rs144739493 0.00002
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094 0.00002
NM_000399.5(EGR2):c.921C>T (p.Ala307=) rs751393520 0.00002
NM_000399.5(EGR2):c.1081A>G (p.Ile361Val) rs147417827 0.00001
NM_000399.5(EGR2):c.1149C>T (p.Asp383=) rs762387092 0.00001
NM_000399.5(EGR2):c.1179C>T (p.Thr393=) rs965148587 0.00001
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422 0.00001
NM_000399.5(EGR2):c.125C>A (p.Ala42Asp) rs969576126 0.00001
NM_000399.5(EGR2):c.1277G>A (p.Arg426Gln) rs780825035 0.00001
NM_000399.5(EGR2):c.1284C>A (p.Ser428Arg) rs754485850 0.00001
NM_000399.5(EGR2):c.139C>G (p.Pro47Ala) rs778369129 0.00001
NM_000399.5(EGR2):c.1420C>T (p.Arg474Trp) rs757007626 0.00001
NM_000399.5(EGR2):c.163G>T (p.Ala55Ser) rs1411975971 0.00001
NM_000399.5(EGR2):c.165C>G (p.Ala55=) rs151290032 0.00001
NM_000399.5(EGR2):c.170-4C>G rs1221455836 0.00001
NM_000399.5(EGR2):c.214G>A (p.Asp72Asn) rs1362876954 0.00001
NM_000399.5(EGR2):c.223T>C (p.Tyr75His) rs745451966 0.00001
NM_000399.5(EGR2):c.267C>T (p.Thr89=) rs747877927 0.00001
NM_000399.5(EGR2):c.369G>A (p.Gly123=) rs1458338517 0.00001
NM_000399.5(EGR2):c.460A>G (p.Met154Val) rs757301326 0.00001
NM_000399.5(EGR2):c.507G>A (p.Pro169=) rs1060504688 0.00001
NM_000399.5(EGR2):c.560C>T (p.Ala187Val) rs372491511 0.00001
NM_000399.5(EGR2):c.567G>A (p.Leu189=) rs1461306330 0.00001
NM_000399.5(EGR2):c.581C>T (p.Thr194Ile) rs1269313182 0.00001
NM_000399.5(EGR2):c.608C>T (p.Pro203Leu) rs1055082588 0.00001
NM_000399.5(EGR2):c.625C>A (p.Pro209Thr) rs749421476 0.00001
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr) rs758869303 0.00001
NM_000399.5(EGR2):c.716A>G (p.His239Arg) rs760456822 0.00001
NM_000399.5(EGR2):c.71A>G (p.Asn24Ser) rs985016283 0.00001
NM_000399.5(EGR2):c.735C>T (p.Asp245=) rs1275161182 0.00001
NM_000399.5(EGR2):c.736C>T (p.Arg246Cys) rs774391305 0.00001
NM_000399.5(EGR2):c.74T>A (p.Ile25Asn) rs763131472 0.00001
NM_000399.5(EGR2):c.769C>A (p.Arg257=) rs368282744 0.00001
NM_000399.5(EGR2):c.774G>A (p.Val258=) rs758709729 0.00001
NM_000399.5(EGR2):c.777C>G (p.Pro259=) rs750955966 0.00001
NM_000399.5(EGR2):c.789T>C (p.Thr263=) rs765678040 0.00001
NM_000399.5(EGR2):c.807T>C (p.Arg269=) rs1367488546 0.00001
NM_000399.5(EGR2):c.877C>T (p.Arg293Trp) rs371616981 0.00001
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn) rs371222708 0.00001
NM_000399.5(EGR2):c.907G>C (p.Ala303Pro) rs1456482795 0.00001
NM_000399.5(EGR2):c.922G>A (p.Ala308Thr) rs766458625 0.00001
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093 0.00001
NM_000399.5(EGR2):c.96C>T (p.Ala32=) rs769285458 0.00001
NM_000399.5(EGR2):c.9C>T (p.Thr3=) rs1554853482 0.00001
NC_000010.10:g.(?_64572967)_(64575789_?)dup
NM_000399.5(EGR2):c.*1028A>G rs886047086
NM_000399.5(EGR2):c.*1080G>A rs886047085
NM_000399.5(EGR2):c.*814_*816del rs886047088
NM_000399.5(EGR2):c.-293ACTG[1] rs886047096
NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln) rs2132703249
NM_000399.5(EGR2):c.1021C>T (p.Pro341Ser)
NM_000399.5(EGR2):c.1022C>G (p.Pro341Arg)
NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu) rs1131691827
NM_000399.5(EGR2):c.1041C>T (p.Cys347=)
NM_000399.5(EGR2):c.1044C>T (p.Asp348=) rs2132703130
NM_000399.5(EGR2):c.1047G>T (p.Arg349=) rs2132703104
NM_000399.5(EGR2):c.1050G>C (p.Arg350=) rs781058000
NM_000399.5(EGR2):c.1050G>T (p.Arg350=)
NM_000399.5(EGR2):c.1065C>A (p.Asp355Glu) rs1589080604
NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu) rs1589080604
NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys) rs751448371
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000399.5(EGR2):c.1072A>T (p.Thr358Ser)
NM_000399.5(EGR2):c.1075C>G (p.Arg359Gly) rs104894161
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1077G>C (p.Arg359=) rs2132702888
NM_000399.5(EGR2):c.1080C>T (p.His360=) rs766297007
NM_000399.5(EGR2):c.1090C>T (p.His364Tyr) rs1842170880
NM_000399.5(EGR2):c.1090_1092dup (p.His364dup) rs1842170750
NM_000399.5(EGR2):c.10G>T (p.Ala4Ser) rs1283821248
NM_000399.5(EGR2):c.1106C>G (p.Pro369Arg)
NM_000399.5(EGR2):c.1118G>A (p.Arg373Gln) rs1564706128
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu) rs281865137
NM_000399.5(EGR2):c.115T>C (p.Phe39Leu) rs369477396
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1160C>T (p.Thr387Ile)
NM_000399.5(EGR2):c.1170C>T (p.Arg390=)
NM_000399.5(EGR2):c.1172C>A (p.Thr391Asn) rs1564706036
NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)
NM_000399.5(EGR2):c.1191C>T (p.Pro397=) rs2132702386
NM_000399.5(EGR2):c.1195G>T (p.Ala399Ser)
NM_000399.5(EGR2):c.1198T>A (p.Cys400Ser) rs1842165409
NM_000399.5(EGR2):c.1199G>C (p.Cys400Ser) rs1564705972
NM_000399.5(EGR2):c.1203C>G (p.Asp401Glu)
NM_000399.5(EGR2):c.1206C>T (p.Tyr402=) rs1554853017
NM_000399.5(EGR2):c.1207T>G (p.Cys403Gly) rs1554853016
NM_000399.5(EGR2):c.1208G>A (p.Cys403Tyr) rs2132702286
NM_000399.5(EGR2):c.1214G>A (p.Arg405Gln)
NM_000399.5(EGR2):c.1214G>T (p.Arg405Leu) rs1842164540
NM_000399.5(EGR2):c.1222G>T (p.Ala408Ser) rs1842164368
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000399.5(EGR2):c.122A>G (p.Asn41Ser)
NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn) rs1842163821
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys) rs121434563
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) rs749558026
NM_000399.5(EGR2):c.1243C>G (p.Arg415Gly) rs1842163429
NM_000399.5(EGR2):c.1243C>T (p.Arg415Cys) rs1842163429
NM_000399.5(EGR2):c.1248C>T (p.His416=) rs1589080344
NM_000399.5(EGR2):c.1260C>G (p.His420Gln) rs1842162935
NM_000399.5(EGR2):c.1268A>G (p.Gln423Arg) rs1842162762
NM_000399.5(EGR2):c.126C>G (p.Ala42=) rs1554853456
NM_000399.5(EGR2):c.1271_1274del (p.Lys424fs)
NM_000399.5(EGR2):c.1274_1275del (p.Glu425fs) rs1589080330
NM_000399.5(EGR2):c.1286G>A (p.Ser429Asn) rs1842161787
NM_000399.5(EGR2):c.129A>G (p.Glu43=) rs1023788893
NM_000399.5(EGR2):c.1302G>T (p.Ser434=)
NM_000399.5(EGR2):c.130C>T (p.Leu44=) rs2132712516
NM_000399.5(EGR2):c.1314del (p.Ser439fs) rs1842160144
NM_000399.5(EGR2):c.1316C>T (p.Ser439Phe)
NM_000399.5(EGR2):c.1319C>T (p.Thr440Ile) rs2132701816
NM_000399.5(EGR2):c.1320A>T (p.Thr440=) rs1842159546
NM_000399.5(EGR2):c.1323C>T (p.Ala441=)
NM_000399.5(EGR2):c.1326C>T (p.Ser442=)
NM_000399.5(EGR2):c.1328G>A (p.Cys443Tyr)
NM_000399.5(EGR2):c.1339G>T (p.Val447Leu) rs759547856
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) rs138967272
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1353T>G (p.Gly451=)
NM_000399.5(EGR2):c.1357C>T (p.Leu453=)
NM_000399.5(EGR2):c.1366A>T (p.Ser456Cys)
NM_000399.5(EGR2):c.1379G>A (p.Ser460Asn)
NM_000399.5(EGR2):c.1379del (p.Ser460fs) rs1842157243
NM_000399.5(EGR2):c.1386C>T (p.Gly462=) rs768284273
NM_000399.5(EGR2):c.1391G>T (p.Gly464Val) rs878855324
NM_000399.5(EGR2):c.1398C>T (p.Leu466=)
NM_000399.5(EGR2):c.1399G>A (p.Ala467Thr) rs146116229
NM_000399.5(EGR2):c.139C>T (p.Pro47Ser) rs778369129
NM_000399.5(EGR2):c.1408T>G (p.Ser470Ala)
NM_000399.5(EGR2):c.1414C>A (p.Arg472=)
NM_000399.5(EGR2):c.1414C>G (p.Arg472Gly) rs1353824847
NM_000399.5(EGR2):c.1421G>A (p.Arg474Gln)
NM_000399.5(EGR2):c.1425A>C (p.Thr475=)
NM_000399.5(EGR2):c.1430G>C (p.Ter477Ser)
NM_000399.5(EGR2):c.151A>G (p.Met51Val) rs1842254660
NM_000399.5(EGR2):c.154A>C (p.Asn52His) rs1842254352
NM_000399.5(EGR2):c.157G>T (p.Gly53Ter)
NM_000399.5(EGR2):c.15G>T (p.Lys5Asn)
NM_000399.5(EGR2):c.166G>A (p.Gly56Arg) rs377204675
NM_000399.5(EGR2):c.169+13T>A rs1479396729
NM_000399.5(EGR2):c.169+19C>T
NM_000399.5(EGR2):c.170-10C>T rs755853466
NM_000399.5(EGR2):c.170-11C>G
NM_000399.5(EGR2):c.170-14T>C
NM_000399.5(EGR2):c.170-19C>A
NM_000399.5(EGR2):c.170-8C>T
NM_000399.5(EGR2):c.171T>C (p.Asp57=)
NM_000399.5(EGR2):c.182A>G (p.Asn61Ser)
NM_000399.5(EGR2):c.184A>G (p.Ile62Val)
NM_000399.5(EGR2):c.18C>T (p.Ala6=) rs1225211720
NM_000399.5(EGR2):c.190A>G (p.Met64Val) rs1035411608
NM_000399.5(EGR2):c.193A>G (p.Thr65Ala)
NM_000399.5(EGR2):c.198A>C (p.Gly66=) rs201770282
NM_000399.5(EGR2):c.200AGA[3] (p.Lys68dup) rs1245170375
NM_000399.5(EGR2):c.202A>C (p.Lys68Gln) rs1042629449
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys) rs776869045
NM_000399.5(EGR2):c.210G>A (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.210G>C (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.217C>A (p.Leu73Ile) rs2132707494
NM_000399.5(EGR2):c.221C>T (p.Pro74Leu)
NM_000399.5(EGR2):c.22G>C (p.Asp8His) rs2132712977
NM_000399.5(EGR2):c.235T>A (p.Phe79Ile) rs1842209779
NM_000399.5(EGR2):c.238G>C (p.Ala80Pro) rs1158907439
NM_000399.5(EGR2):c.278T>G (p.Met93Arg) rs200488421
NM_000399.5(EGR2):c.292A>G (p.Ile98Val)
NM_000399.5(EGR2):c.293T>C (p.Ile98Thr) rs1589081791
NM_000399.5(EGR2):c.311G>A (p.Gly104Asp)
NM_000399.5(EGR2):c.339C>A (p.Ile113=) rs1842207132
NM_000399.5(EGR2):c.356G>C (p.Gly119Ala)
NM_000399.5(EGR2):c.364C>T (p.Gln122Ter) rs1842206449
NM_000399.5(EGR2):c.379C>G (p.Pro127Ala) rs1842205838
NM_000399.5(EGR2):c.382_387del (p.Ala128_Ser129del) rs780288079
NM_000399.5(EGR2):c.384T>A (p.Ala128=)
NM_000399.5(EGR2):c.388A>G (p.Thr130Ala) rs1564707625
NM_000399.5(EGR2):c.398C>T (p.Ser133Leu)
NM_000399.5(EGR2):c.410C>A (p.Thr137Asn) rs1017236982
NM_000399.5(EGR2):c.415G>T (p.Ala139Ser) rs2132706614
NM_000399.5(EGR2):c.417C>T (p.Ala139=) rs1842204239
NM_000399.5(EGR2):c.426C>T (p.Asn142=)
NM_000399.5(EGR2):c.428C>A (p.Pro143Gln) rs1327438695
NM_000399.5(EGR2):c.430C>T (p.Leu144=)
NM_000399.5(EGR2):c.443C>A (p.Pro148His)
NM_000399.5(EGR2):c.451G>A (p.Val151Met) rs1842202676
NM_000399.5(EGR2):c.458C>A (p.Thr153Asn) rs1414598345
NM_000399.5(EGR2):c.458C>T (p.Thr153Ile) rs1414598345
NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)
NM_000399.5(EGR2):c.46G>A (p.Gly16Ser) rs2132712905
NM_000399.5(EGR2):c.475C>A (p.Pro159Thr)
NM_000399.5(EGR2):c.480C>T (p.Asp160=) rs1842201460
NM_000399.5(EGR2):c.500C>T (p.Pro167Leu) rs1842200895
NM_000399.5(EGR2):c.501G>A (p.Pro167=)
NM_000399.5(EGR2):c.504del (p.Pro169fs)
NM_000399.5(EGR2):c.506C>T (p.Pro169Leu)
NM_000399.5(EGR2):c.508CCT[3] (p.Pro173del)
NM_000399.5(EGR2):c.508CCT[5] (p.Pro173dup) rs756443238
NM_000399.5(EGR2):c.518_520del (p.Pro173_Tyr174delinsHis)
NM_000399.5(EGR2):c.535G>A (p.Gly179Arg)
NM_000399.5(EGR2):c.53T>G (p.Val18Gly) rs1842258303
NM_000399.5(EGR2):c.551A>G (p.Asp184Gly) rs1589081367
NM_000399.5(EGR2):c.560C>A (p.Ala187Glu) rs372491511
NM_000399.5(EGR2):c.564C>T (p.Phe188=) rs776212792
NM_000399.5(EGR2):c.594_596dup (p.Ser199dup) rs750792592
NM_000399.5(EGR2):c.601G>T (p.Ala201Ser) rs1697158798
NM_000399.5(EGR2):c.614C>T (p.Pro205Leu) rs2132705403
NM_000399.5(EGR2):c.630C>T (p.Ser210=)
NM_000399.5(EGR2):c.645G>A (p.Thr215=) rs781408172
NM_000399.5(EGR2):c.645G>C (p.Thr215=)
NM_000399.5(EGR2):c.65C>G (p.Ser22Cys)
NM_000399.5(EGR2):c.676T>A (p.Tyr226Asn)
NM_000399.5(EGR2):c.684A>T (p.Gly228=) rs1021225769
NM_000399.5(EGR2):c.712C>T (p.Leu238=)
NM_000399.5(EGR2):c.718G>A (p.Gly240Ser) rs1842190634
NM_000399.5(EGR2):c.719G>A (p.Gly240Asp)
NM_000399.5(EGR2):c.721A>G (p.Thr241Ala) rs1842190431
NM_000399.5(EGR2):c.723A>C (p.Thr241=)
NM_000399.5(EGR2):c.737G>A (p.Arg246His) rs1060502676
NM_000399.5(EGR2):c.73A>G (p.Ile25Val) rs1178718119
NM_000399.5(EGR2):c.74T>C (p.Ile25Thr) rs763131472
NM_000399.5(EGR2):c.762C>T (p.Asp254=)
NM_000399.5(EGR2):c.765C>T (p.Thr255=)
NM_000399.5(EGR2):c.766C>T (p.Leu256=)
NM_000399.5(EGR2):c.769C>T (p.Arg257Trp) rs368282744
NM_000399.5(EGR2):c.770G>A (p.Arg257Gln) rs780441708
NM_000399.5(EGR2):c.779C>A (p.Pro260His) rs1842187873
NM_000399.5(EGR2):c.77A>G (p.Tyr26Cys)
NM_000399.5(EGR2):c.780T>A (p.Pro260=) rs1465091838
NM_000399.5(EGR2):c.791C>T (p.Pro264Leu) rs1842187600
NM_000399.5(EGR2):c.79C>T (p.Pro27Ser)
NM_000399.5(EGR2):c.805C>T (p.Arg269Cys) rs1842186521
NM_000399.5(EGR2):c.808A>G (p.Asn270Asp)
NM_000399.5(EGR2):c.815C>T (p.Thr272Ile) rs774959041
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.818T>C (p.Leu273Pro)
NM_000399.5(EGR2):c.830G>A (p.Ser277Asn) rs761862879
NM_000399.5(EGR2):c.843C>G (p.Thr281=)
NM_000399.5(EGR2):c.843C>T (p.Thr281=) rs375890313
NM_000399.5(EGR2):c.844G>A (p.Gly282Arg)
NM_000399.5(EGR2):c.867C>T (p.Ser289=)
NM_000399.5(EGR2):c.868G>A (p.Glu290Lys) rs1842182998
NM_000399.5(EGR2):c.874C>T (p.Pro292Ser)
NM_000399.5(EGR2):c.875C>T (p.Pro292Leu)
NM_000399.5(EGR2):c.878G>A (p.Arg293Gln) rs2132703986
NM_000399.5(EGR2):c.879G>C (p.Arg293=)
NM_000399.5(EGR2):c.882G>C (p.Leu294=)
NM_000399.5(EGR2):c.897AGC[3] (p.Ala308_Ala309del)
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup) rs746688326
NM_000399.5(EGR2):c.910GCC[3] (p.Ala307_Ala309del) rs753747037
NM_000399.5(EGR2):c.910GCC[4] (p.Ala308_Ala309del)
NM_000399.5(EGR2):c.910GCC[5] (p.Ala309del) rs753747037
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup) rs753747037
NM_000399.5(EGR2):c.911C>T (p.Ala304Val) rs1440557742
NM_000399.5(EGR2):c.912C>T (p.Ala304=)
NM_000399.5(EGR2):c.913G>A (p.Ala305Thr)
NM_000399.5(EGR2):c.916G>A (p.Ala306Thr) rs1589080827
NM_000399.5(EGR2):c.91C>G (p.Leu31Val) rs535186925
NM_000399.5(EGR2):c.91C>T (p.Leu31Phe) rs535186925
NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)
NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)
NM_000399.5(EGR2):c.943C>T (p.Leu315=)
NM_000399.5(EGR2):c.947C>T (p.Pro316Leu) rs1589080747
NM_000399.5(EGR2):c.953G>C (p.Arg318Pro) rs775751575
NM_000399.5(EGR2):c.957C>T (p.Pro319=) rs772281054
NM_000399.5(EGR2):c.958A>G (p.Ile320Val) rs2132703451
NM_000399.5(EGR2):c.978C>T (p.Tyr326=)
NM_000399.5(EGR2):c.983A>G (p.Asn328Ser)
NM_000399.5(EGR2):c.98C>T (p.Ala33Val)
NM_000399.5(EGR2):c.990C>G (p.Pro330=)

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