ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease, type I by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 441
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) rs147718043 0.00023
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_000304.4(PMP22):c.177C>T (p.Asn59=) rs376797385 0.00009
NM_000399.5(EGR2):c.229A>G (p.Ser77Gly) rs554815622 0.00008
NM_000304.4(PMP22):c.88G>A (p.Val30Met) rs377335295 0.00007
NM_000399.5(EGR2):c.679C>T (p.Pro227Ser) rs794727248 0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000304.4(PMP22):c.25A>G (p.Ile9Val) rs138515303 0.00004
NM_000304.4(PMP22):c.383C>T (p.Ser128Leu) rs778731157 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.826C>A (p.Pro276Thr) rs774442561 0.00004
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) rs764402416 0.00004
NM_000304.4(PMP22):c.365C>T (p.Pro122Leu) rs768085434 0.00003
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) rs573456055 0.00003
NM_000304.4(PMP22):c.173C>A (p.Pro58Gln) rs745939923 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000399.5(EGR2):c.1402C>T (p.Pro468Ser) rs374833463 0.00002
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn) rs758417016 0.00002
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729 0.00002
NM_000304.4(PMP22):c.103G>A (p.Ala35Thr) rs750000952 0.00001
NM_000304.4(PMP22):c.130A>T (p.Thr44Ser) rs112651887 0.00001
NM_000304.4(PMP22):c.134C>T (p.Ser45Phe) rs1259742235 0.00001
NM_000304.4(PMP22):c.241T>C (p.Phe81Leu) rs748551014 0.00001
NM_000304.4(PMP22):c.301A>C (p.Ile101Leu) rs1461201721 0.00001
NM_000304.4(PMP22):c.328G>A (p.Val110Met) rs1044810473 0.00001
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs140763467 0.00001
NM_000304.4(PMP22):c.409A>G (p.Ile137Val) rs755551524 0.00001
NM_000304.4(PMP22):c.454A>G (p.Ile152Val) rs1398185771 0.00001
NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys) rs761138676 0.00001
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_000304.4(PMP22):c.84G>C (p.Trp28Cys) rs1442525908 0.00001
NM_000304.4(PMP22):c.98G>A (p.Gly33Glu) rs754175558 0.00001
NM_000399.5(EGR2):c.1081A>G (p.Ile361Val) rs147417827 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.214G>A (p.Asp72Asn) rs1362876954 0.00001
NM_000399.5(EGR2):c.223T>C (p.Tyr75His) rs745451966 0.00001
NM_000399.5(EGR2):c.460A>G (p.Met154Val) rs757301326 0.00001
NM_000399.5(EGR2):c.560C>T (p.Ala187Val) rs372491511 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.736C>T (p.Arg246Cys) rs774391305 0.00001
NM_000399.5(EGR2):c.74T>A (p.Ile25Asn) rs763131472 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_000530.8(MPZ):c.116A>G (p.His39Arg) rs371856018 0.00001
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser) rs765575997 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) rs749459367 0.00001
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr) rs540599381 0.00001
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser) rs777338757 0.00001
NM_000530.8(MPZ):c.275T>A (p.Val92Glu) rs1352220911 0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609 0.00001
NM_000530.8(MPZ):c.37A>G (p.Ile13Val) rs145285010 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.505G>T (p.Val169Leu) rs776316386 0.00001
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) rs1238706311 0.00001
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998 0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn) rs773002116 0.00001
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr) rs1471261466 0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NC_000001.10:g.(?_161279609)_(161751809_?)dup
NC_000010.10:g.(?_64572967)_(64575789_?)dup
NC_000010.10:g.(?_64572967)_(65225422_?)del
NC_000017.10:g.(?_15142768)_(15142948_?)dup
NM_000304.4(PMP22):c.109G>A (p.Asp37Asn)
NM_000304.4(PMP22):c.113T>C (p.Leu38Pro) rs1234608261
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.125G>A (p.Cys42Tyr)
NM_000304.4(PMP22):c.172C>T (p.Pro58Ser) rs772242644
NM_000304.4(PMP22):c.178G>A (p.Glu60Lys)
NM_000304.4(PMP22):c.179-3C>G rs1284105482
NM_000304.4(PMP22):c.191C>T (p.Ser64Phe) rs1311837830
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.203C>T (p.Thr68Ile) rs2150676849
NM_000304.4(PMP22):c.212T>A (p.Leu71Gln)
NM_000304.4(PMP22):c.229A>G (p.Ile77Val)
NM_000304.4(PMP22):c.23T>A (p.Ile8Asn)
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) rs778693173
NM_000304.4(PMP22):c.277G>T (p.Gly93Trp)
NM_000304.4(PMP22):c.278G>C (p.Gly93Ala)
NM_000304.4(PMP22):c.292A>G (p.Ile98Val) rs748778392
NM_000304.4(PMP22):c.296C>T (p.Thr99Ile)
NM_000304.4(PMP22):c.316G>A (p.Ala106Thr)
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) rs1597607537
NM_000304.4(PMP22):c.319G>C (p.Gly107Arg) rs1362042435
NM_000304.4(PMP22):c.32T>G (p.Leu11Arg) rs1567719334
NM_000304.4(PMP22):c.338C>T (p.Ala113Val) rs774831750
NM_000304.4(PMP22):c.350A>G (p.Tyr117Cys)
NM_000304.4(PMP22):c.370T>C (p.Trp124Arg)
NM_000304.4(PMP22):c.374A>G (p.His125Arg) rs2150664758
NM_000304.4(PMP22):c.376C>G (p.Leu126Val)
NM_000304.4(PMP22):c.380A>G (p.Asn127Ser) rs1345860559
NM_000304.4(PMP22):c.38T>C (p.Val13Ala) rs1909248074
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.413T>C (p.Leu138Pro)
NM_000304.4(PMP22):c.421G>A (p.Val141Met)
NM_000304.4(PMP22):c.435G>A (p.Leu145=) rs1906262905
NM_000304.4(PMP22):c.476G>A (p.Arg159His) rs773478255
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.481T>C (p.Ter161Arg) rs2150664495
NM_000304.4(PMP22):c.52CTG[1] (p.Leu19del) rs2150710120
NM_000304.4(PMP22):c.64T>C (p.Ser22Pro)
NM_000304.4(PMP22):c.68C>T (p.Thr23Met)
NM_000304.4(PMP22):c.72C>G (p.Ile24Met) rs371373574
NM_000304.4(PMP22):c.78+5G>C rs1174594975
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) rs1442525908
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.1065C>A (p.Asp355Glu) rs1589080604
NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu) rs1589080604
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.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.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.1172C>A (p.Thr391Asn) rs1564706036
NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)
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.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.122A>G (p.Asn41Ser)
NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn) rs1842163821
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.1260C>G (p.His420Gln) rs1842162935
NM_000399.5(EGR2):c.1268A>G (p.Gln423Arg) rs1842162762
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.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.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.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.1391G>T (p.Gly464Val) rs878855324
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>G (p.Arg472Gly) rs1353824847
NM_000399.5(EGR2):c.1421G>A (p.Arg474Gln)
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.182A>G (p.Asn61Ser)
NM_000399.5(EGR2):c.184A>G (p.Ile62Val)
NM_000399.5(EGR2):c.190A>G (p.Met64Val) rs1035411608
NM_000399.5(EGR2):c.193A>G (p.Thr65Ala)
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.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.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.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.428C>A (p.Pro143Gln) rs1327438695
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.500C>T (p.Pro167Leu) rs1842200895
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.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.65C>G (p.Ser22Cys)
NM_000399.5(EGR2):c.676T>A (p.Tyr226Asn)
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.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.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.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.818T>C (p.Leu273Pro)
NM_000399.5(EGR2):c.830G>A (p.Ser277Asn) rs761862879
NM_000399.5(EGR2):c.844G>A (p.Gly282Arg)
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.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.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.947C>T (p.Pro316Leu) rs1589080747
NM_000399.5(EGR2):c.953G>C (p.Arg318Pro) rs775751575
NM_000399.5(EGR2):c.958A>G (p.Ile320Val) rs2132703451
NM_000399.5(EGR2):c.983A>G (p.Asn328Ser)
NM_000399.5(EGR2):c.98C>T (p.Ala33Val)
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser) rs1571820317
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu)
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys) rs1670288965
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser) rs1670288915
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys) rs1670288858
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) rs1558155851
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala)
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln) rs760227243
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.136G>C (p.Val46Leu) rs1571820190
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser)
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile)
NM_000530.8(MPZ):c.145C>A (p.His49Asn)
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr)
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) rs1558154644
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) rs1571820100
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys)
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) rs1553259785
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.182A>T (p.Asp61Val)
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) rs1060503421
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly)
NM_000530.8(MPZ):c.209C>A (p.Pro70His)
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) rs1060503422
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala)
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) rs773724920
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys) rs1670283272
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro) rs2102259765
NM_000530.8(MPZ):c.234G>A (p.Ser78=) rs368149365
NM_000530.8(MPZ):c.234G>T (p.Ser78=)
NM_000530.8(MPZ):c.235A>G (p.Ile79Val)
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu)
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro) rs1670269181
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser) rs1553259700
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) rs1553259700
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) rs1558154208
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn)
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.278G>T (p.Gly93Val) rs1060503418
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu) rs2102259152
NM_000530.8(MPZ):c.305T>A (p.Val102Glu) rs2102259119
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) rs1060503419
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) rs777378929
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) rs777378929
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly) rs1670265880
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu) rs1670265812
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser) rs121913609
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg)
NM_000530.8(MPZ):c.325G>C (p.Asp109His) rs1060503420
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly) rs1670264965
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) rs1553259664
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr) rs1553259663
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys)
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.345C>A (p.His115Gln) rs752484126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala)
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro) rs2102258946
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg) rs2102258946
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp) rs1670263376
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) rs878854030
NM_000530.8(MPZ):c.369C>T (p.Gly123=)
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser)
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser) rs1230674741
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly)
NM_000530.8(MPZ):c.382G>C (p.Asp128His) rs267607243
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr) rs267607243
NM_000530.8(MPZ):c.385G>T (p.Val129Phe)
NM_000530.8(MPZ):c.386T>G (p.Val129Gly) rs2102258829
NM_000530.8(MPZ):c.391A>C (p.Asn131His) rs1571818826
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala) rs1571818775
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) rs1553259646
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.407T>G (p.Val136Gly) rs1571818744
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln) rs1571818721
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) rs1571818721
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr)
NM_000530.8(MPZ):c.415_417del (p.Thr139del)
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro)
NM_000530.8(MPZ):c.424G>A (p.Val142Ile)
NM_000530.8(MPZ):c.424G>T (p.Val142Phe) rs876661257
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del)
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys) rs1670257659
NM_000530.8(MPZ):c.448+12G>T rs2102258615
NM_000530.8(MPZ):c.448G>A (p.Val150Met) rs1558153967
NM_000530.8(MPZ):c.448G>T (p.Val150Leu)
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
NM_000530.8(MPZ):c.466G>T (p.Val156Phe) rs775916243
NM_000530.8(MPZ):c.474G>A (p.Leu158=)
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly)
NM_000530.8(MPZ):c.486C>G (p.Ile162Met) rs267607246
NM_000530.8(MPZ):c.488G>C (p.Gly163Ala)
NM_000530.8(MPZ):c.498C>A (p.Leu166=) rs1224818819
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp)
NM_000530.8(MPZ):c.529T>C (p.Tyr177His)
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) rs1385085988
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser)
NM_000530.8(MPZ):c.566C>T (p.Ala189Val) rs1268318757
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys)
NM_000530.8(MPZ):c.584+3A>T rs1670241598
NM_000530.8(MPZ):c.589A>G (p.Met197Val) rs567817208
NM_000530.8(MPZ):c.590T>G (p.Met197Arg)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu) rs879254142
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu)
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) rs932826788
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) rs1670234637
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu)
NM_000530.8(MPZ):c.618A>T (p.Gly206=)
NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)
NM_000530.8(MPZ):c.645G>A (p.Gln215=) rs1670232790
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-16_654dup
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-5C>A rs201115971
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala) rs281865132
NM_000530.8(MPZ):c.67+4A>G rs1571822765
NM_000530.8(MPZ):c.67+5G>T rs1670359056
NM_000530.8(MPZ):c.67G>A (p.Val23Met)
NM_000530.8(MPZ):c.68-11T>C
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.68-3C>T
NM_000530.8(MPZ):c.68-5T>G rs1553259835
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu) rs2102257203
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) rs1670224859
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) rs775575673
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe)
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln) rs1670223250
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro)
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) rs1386345719
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000530.8(MPZ):c.95T>G (p.Val32Gly) rs1670289570
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609

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